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Stickler syndrome type 1(STL1)

MedGen UID:
810955
Concept ID:
C2020284
Disease or Syndrome
Synonyms: Arthroophthalmopathy, hereditary progressive; COL2A1-Associated Stickler Syndrome; COL2A1-Related Stickler Syndrome; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1; STL1
SNOMED CT: Hereditary arthro-ophthalmopathy (78675000); Stickler syndrome type 1 (1010668008); Hereditary progressive arthro-ophthalmopathy (78675000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0007160
OMIM®: 108300
Orphanet: ORPHA90653

Definition

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from GeneReviews]

Additional descriptions

From OMIM
Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis (summary by Baker et al., 2011). Genetic Heterogeneity of Stickler Syndrome See 609508 for a form of Stickler syndrome type I that is solely or predominantly ocular and is also caused by mutation in the COL2A1 gene. Stickler syndrome type II (STL2; 604841), sometimes called the beaded vitreous type, is caused by mutation in the COL11A1 gene (120280) on chromosome 1p21. These forms of Stickler syndrome are autosomal dominant. Autosomal recessive forms of Stickler syndrome include Stickler syndrome type IV (STL4; 614134), caused by mutation in the COL9A1 gene (120210) on chromosome 6q13,; Stickler syndrome type V (STL5; 614284), caused by mutation in the COL9A2 gene (120260) on chromosome 1p34; and Stickler syndrome type VI (STL6; 620022), caused by mutation in the COL9A3 gene (120270) on chromosome 20q13. A disorder previously designated Stickler syndrome type III (STL3), or 'nonocular Stickler syndrome,' has been reclassified as a form of otospondylomegaepiphyseal dysplasia (OSMEDA; 184840).  http://www.omim.org/entry/108300
From MedlinePlus Genetics
Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.

A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing.

Many people with Stickler syndrome have severe nearsightedness (high myopia), which means they have trouble seeing things that are far away. In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases.

In people with Stickler syndrome, hearing loss varies in degree and may become more severe over time. The hearing loss may be sensorineural, meaning that it results from changes in the inner ear, or conductive, meaning that it is caused by abnormalities of the middle ear.

Most people with Stickler syndrome have skeletal abnormalities that affect the joints. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness. Problems with the bones of the spine (vertebrae) can also occur, including abnormal curvature of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). These spinal abnormalities may cause back pain.

A condition similar to Stickler syndrome, called Marshall syndrome, is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome can also include short stature. Some researchers have classified Marshall syndrome as a variant of Stickler syndrome, while others consider it to be a separate disorder.

Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes and their patterns of signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. Type I has the highest risk of retinal detachment. Type II also includes eye abnormalities, but type III does not (and is often called non-ocular Stickler syndrome). Types II and III are more likely than type I to have significant hearing loss. Types IV, V, and VI are very rare and have each been diagnosed in only a few individuals.  https://medlineplus.gov/genetics/condition/stickler-syndrome

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Disproportionate tall stature
MedGen UID:
323048
Concept ID:
C1836996
Finding
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Sensorineural hearing impairment
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Arthropathy
MedGen UID:
7190
Concept ID:
C0022408
Disease or Syndrome
Any disorder of the joints.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteoarthritis
MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Juvenile osteochondrosis of spine
MedGen UID:
19885
Concept ID:
C0036310
Disease or Syndrome
Scheuermann disease is characterized by lumbar or thoracic kyphosis or both, back pain, and a variety of vertebral changes including wedging, endplate irregularity, narrowing of disc spaces, Schmorl nodes, and detached epiphyseal rings. It is reported to occur more frequently in boys than in girls (summary by McKenzie and Sillence, 1992).
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Spondyloepiphyseal dysplasia
MedGen UID:
20916
Concept ID:
C0038015
Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Spondylolisthesis
MedGen UID:
52470
Concept ID:
C0038016
Disease or Syndrome
Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).
Joint stiffness
MedGen UID:
56403
Concept ID:
C0162298
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Irregular femoral epiphysis
MedGen UID:
340592
Concept ID:
C1850658
Finding
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Abnormal femoral epiphysis morphology
MedGen UID:
870585
Concept ID:
C4025034
Anatomical Abnormality
An anomaly of a growth plate of a femur.
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Submucous cleft hard palate
MedGen UID:
98472
Concept ID:
C0432103
Congenital Abnormality
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Vitreoretinopathy
MedGen UID:
87480
Concept ID:
C0344290
Disease or Syndrome
Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Membranous vitreous appearance
MedGen UID:
1386132
Concept ID:
C4477006
Anatomical Abnormality
Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.
Retinal hole
MedGen UID:
1642357
Concept ID:
C4551442
Disease or Syndrome
A small break in the retina.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744Free PMC Article
Richards AJ, Laidlaw M, Whittaker J, Treacy B, Rai H, Bearcroft P, Baguley DM, Poulson A, Ang A, Scott JD, Snead MP
Hum Mutat 2006 Jul;27(7):696-704. doi: 10.1002/humu.20347. PMID: 16752401
Freddi S, Savarirayan R, Bateman JF
Am J Med Genet 2000 Feb 28;90(5):398-406. PMID: 10706362

Recent clinical studies

Etiology

Wang A, Nixon T, Martin H, Richards A, McNinch A, Alexander P, Pujari R, Bale P, Shenker N, Bearcroft P, Brown S, Blackwell A, Poulson A, Snead M
Arch Dis Child 2023 Oct;108(10):789-791. Epub 2023 Mar 7 doi: 10.1136/archdischild-2022-325059. PMID: 36882306
Alexander P, Snead MP
Genes (Basel) 2022 Jun 26;13(7) doi: 10.3390/genes13071150. PMID: 35885933Free PMC Article
Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP
Genes (Basel) 2022 Jun 18;13(6) doi: 10.3390/genes13061089. PMID: 35741851Free PMC Article
Bath F, Swanson D, Zavala H, Chinnadurai S, Roby BB
Cleft Palate Craniofac J 2022 Aug;59(8):970-975. Epub 2021 Jul 9 doi: 10.1177/10556656211029519. PMID: 34238052
McArthur N, Rehm A, Shenker N, Richards AJ, McNinch AM, Poulson AV, Tanner J, Snead MP, Bearcroft PWP
Clin Radiol 2018 Jul;73(7):678.e13-678.e18. Epub 2018 Apr 13 doi: 10.1016/j.crad.2018.03.004. PMID: 29661559

Diagnosis

Wang A, Nixon T, Martin H, Richards A, McNinch A, Alexander P, Pujari R, Bale P, Shenker N, Bearcroft P, Brown S, Blackwell A, Poulson A, Snead M
Arch Dis Child 2023 Oct;108(10):789-791. Epub 2023 Mar 7 doi: 10.1136/archdischild-2022-325059. PMID: 36882306
Bath F, Swanson D, Zavala H, Chinnadurai S, Roby BB
Cleft Palate Craniofac J 2022 Aug;59(8):970-975. Epub 2021 Jul 9 doi: 10.1177/10556656211029519. PMID: 34238052
Wang DD, Gao FJ, Hu FY, Li JK, Zhang SH, Xu P, Chang Q, Jiang R, Wu JH
Acta Ophthalmol 2020 Jun;98(4):e440-e446. Epub 2019 Nov 17 doi: 10.1111/aos.14302. PMID: 31736238
Rishi P, Maheshwari A, Rishi E
Indian J Ophthalmol 2015 Jul;63(7):614-5. doi: 10.4103/0301-4738.167114. PMID: 26458481Free PMC Article
Al Kaissi A, Chehida FB, Ganger R, Kenis V, Zandieh S, Hofstaetter JG, Klaushofer K, Grill F
Int J Med Sci 2013;10(9):1250-8. Epub 2013 Aug 3 doi: 10.7150/ijms.4997. PMID: 23935403Free PMC Article

Therapy

Naravane AV, Belin PJ, Quiram PA
Ophthalmic Surg Lasers Imaging Retina 2023 Feb;54(2):102-107. Epub 2023 Feb 1 doi: 10.3928/23258160-20230119-01. PMID: 36780636
Onesimo R, De Rose C, Cipolla C, Casa SD, Leoni C, Salerni A, Ricci D, Zampino G
Ital J Pediatr 2020 Dec 1;46(1):178. doi: 10.1186/s13052-020-00945-x. PMID: 33256801Free PMC Article
Boysen KB, La Cour M, Kessel L
Ophthalmic Genet 2020 Jun;41(3):223-234. Epub 2020 Apr 21 doi: 10.1080/13816810.2020.1747092. PMID: 32316871
Wubben TJ, Branham KH, Besirli CG, Bohnsack BL
Ophthalmic Genet 2018 Oct;39(5):615-618. Epub 2018 Aug 21 doi: 10.1080/13816810.2018.1509355. PMID: 30130436
Carroll C, Papaioannou D, Rees A, Kaltenthaler E
Health Technol Assess 2011 Apr;15(16):iii-xiv, 1-62. doi: 10.3310/hta15160. PMID: 21466760Free PMC Article

Prognosis

Asano M, Yokoyama K, Oku K, Matsushita I, Kimoto K, Kubota T, Kondo H
Ophthalmic Genet 2022 Aug;43(4):508-512. Epub 2022 Apr 26 doi: 10.1080/13816810.2022.2068044. PMID: 35473494
Zimmermann J, Stubbs DJ, Richards AJ, Alexander P, McNinch AM, Matta B, Snead MP
Anesth Analg 2021 Jan;132(1):202-209. doi: 10.1213/ANE.0000000000004582. PMID: 31856005Free PMC Article
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712Free PMC Article
Laurentino TS, Soares RDS, Marie SKN, Oba-Shinjo SM
Int J Mol Sci 2019 Jul 23;20(14) doi: 10.3390/ijms20143587. PMID: 31340433Free PMC Article
Wubben TJ, Branham KH, Besirli CG, Bohnsack BL
Ophthalmic Genet 2018 Oct;39(5):615-618. Epub 2018 Aug 21 doi: 10.1080/13816810.2018.1509355. PMID: 30130436

Clinical prediction guides

Wang A, Nixon T, Martin H, Richards A, McNinch A, Alexander P, Pujari R, Bale P, Shenker N, Bearcroft P, Brown S, Blackwell A, Poulson A, Snead M
Arch Dis Child 2023 Oct;108(10):789-791. Epub 2023 Mar 7 doi: 10.1136/archdischild-2022-325059. PMID: 36882306
Asano M, Yokoyama K, Oku K, Matsushita I, Kimoto K, Kubota T, Kondo H
Ophthalmic Genet 2022 Aug;43(4):508-512. Epub 2022 Apr 26 doi: 10.1080/13816810.2022.2068044. PMID: 35473494
Baiyasi A, Barbosa J, Parendo A, Lin X
Eur J Ophthalmol 2022 Nov;32(6):NP10-NP12. Epub 2021 Jul 27 doi: 10.1177/11206721211035611. PMID: 34313156
Zimmermann J, Stubbs DJ, Richards AJ, Alexander P, McNinch AM, Matta B, Snead MP
Anesth Analg 2021 Jan;132(1):202-209. doi: 10.1213/ANE.0000000000004582. PMID: 31856005Free PMC Article
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712Free PMC Article

Recent systematic reviews

Boysen KB, La Cour M, Kessel L
Ophthalmic Genet 2020 Jun;41(3):223-234. Epub 2020 Apr 21 doi: 10.1080/13816810.2020.1747092. PMID: 32316871
Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH
BMC Med Genet 2020 Feb 10;21(1):27. doi: 10.1186/s12881-020-0963-z. PMID: 32039712Free PMC Article
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM
Orphanet J Rare Dis 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709Free PMC Article
Carroll C, Papaioannou D, Rees A, Kaltenthaler E
Health Technol Assess 2011 Apr;15(16):iii-xiv, 1-62. doi: 10.3310/hta15160. PMID: 21466760Free PMC Article

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