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Select item 106203551.

Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature

Farnaz Kamali, Mahnaz Jamee, John A. Sayer, Simin Sadeghi-Bojd, Zahra Golchehre, Reyhaneh Dehghanzad, Mohammad Keramatipour, Masoumeh Mohkam

CEN Case Rep. 2023 Nov; 12(4): 413–418. Published online 2023 Mar 26. doi: 10.1007/s13730-023-00785-8

PMCID:: PMC10620355

Article PDF–637K

Select item 81080072.

A New Frontonasal Dysplasia Syndrome Associated with Deletion of the SIX2 Gene

Robert B. Hufnagel, Sarah L. Zimmerman, Laura A. Krueger, Patricia L. Bender, Zubair M. Ahmed, Howard M. Saal

Am J Med Genet A. Author manuscript; available in PMC 2021 May 10.

Published in final edited form as: Am J Med Genet A. 2016 Feb; 170A(2): 487–491. Published online 2015 Nov 18. doi: 10.1002/ajmg.a.37441

PMCID:: PMC8108007

Article PDF–646K

Select item 72221493.

A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

Mehmet Eltan, Ceren Alavanda, Zehra Yavas Abali, Pinar Ergenekon, Nilufer Yalındag Ozturk, Mustafa Sakar, Adnan Dagcinar, Tarik Kirkgoz, Sare Betul Kaygusuz, Yasemin Gokdemir, Huriye Nursel Elcioglu, Tulay Guran, Abdullah Bereket, Pinar Ata, Serap Turan

Calcif Tissue Int. 2020; 107(1): 96–103. Published online 2020 Apr 27. doi: 10.1007/s00223-020-00694-3

PMCID:: PMC7222149

Article PDF–1.0M

Select item 70641224.

Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands

Ana Gómez-Carpintero García, Ana Vidal Esteban, Amanda Bermejo Gómez, Ruth Camila Púa Torrejón

BMJ Case Rep. 2020; 13(3): e231938. Published online 2020 Mar 8. doi: 10.1136/bcr-2019-231938

PMCID:: PMC7064122

Article PDF–135K

Select item 67454555.

A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment

Emine Çamtosun, Ayşehan Akıncı, Emine Demiral, İbrahim Tekedereli, Ahmet Sığırcı

J Clin Res Pediatr Endocrinol. 2019 Sep; 11(3): 301–305. Published online 2019 Sep 3. doi: 10.4274/jcrpe.galenos.2018.2018.0211

PMCID:: PMC6745455

Article PDF–990K

Select item 59414896.

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke, V. H. W. Dissanayake

BMC Med Genomics. 2018; 11: 44. Published online 2018 May 8. doi: 10.1186/s12920-018-0366-6

PMCID:: PMC5941489

Article PDF–3.2M

Select item 54351017.

Clinical and genetic aspects of KBG syndrome

Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Kathryn Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, DDD Study, Sarah Smithson

Am J Med Genet A. 2016 Nov; 170(11): 2835–2846. Published online 2016 Sep 26. doi: 10.1002/ajmg.a.37842

PMCID:: PMC5435101

Article PDF–1.3M

Select item 17344348.

Monosomy 1p36

A. Slavotinek, L. Shaffer, S. Shapira

J Med Genet. 1999 Sep; 36(9): 657–663.

PMCID:: PMC1734434

Summary PDF–142K

Select item 17159499.

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

S K Shapira, C McCaskill, H Northrup, A S Spikes, F F Elder, V R Sutton, J R Korenberg, F Greenberg, L G Shaffer

Am J Hum Genet. 1997 Sep; 61(3): 642–650. doi: 10.1086/515520

PMCID:: PMC1715949

Summary Page Browse PDF–2.1M

Select item 105119510.

Intrachromosomal triplication of distal 7p.

H Rivera, L Bobadilla, A Rolon, J Kunz, J A Crolla

J Med Genet. 1998 Jan; 35(1): 78–80. doi: 10.1136/jmg.35.1.78

PMCID:: PMC1051195

Summary Page Browse PDF–801K

Select item 105026811.

Congenital cutis laxa with retardation of growth and development.

M A Patton, J Tolmie, P Ruthnum, S Bamforth, M Baraitser, M Pembrey

J Med Genet. 1987 Sep; 24(9): 556–561. doi: 10.1136/jmg.24.9.556

PMCID:: PMC1050268

Summary Page Browse PDF–1.1M

Select item 101565512.

Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth.

R C Shepherd, D R Goudie, J L Tolmie

J Med Genet. 1989 Jul; 26(7): 470–472. doi: 10.1136/jmg.26.7.470

PMCID:: PMC1015655

Summary Page Browse PDF–753K

Select item 1081546513.

First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review

Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo

Genes (Basel) 2024 Jan; 15(1): 130. Published online 2024 Jan 20. doi: 10.3390/genes15010130

PMCID:: PMC10815465

Article PDF–1.5M

Select item 1023803414.

Anterior fontanel size in Korean nursery newborns and clinical implications of large anterior fontanel: A retrospective cohort, observational study

Kee Hyun Cho, Ja Kyoung Kim, Eun Sun Kim

Medicine (Baltimore) 2023 Jun 2; 102(22): e33882. Published online 2023 Jun 2. doi: 10.1097/MD.0000000000033882

PMCID:: PMC10238034

Article PDF–502K

Select item 944896215.

Fontaine progeroid syndrome—A case report

Sinéad Lally, Nicola Walsh, Janna Kenny, Orla Franklin, Melanie Cotter, Sarah Richardson, Fiona McEligott, Alan Finan

Clin Case Rep. 2022 Sep; 10(9): e6291. Published online 2022 Sep 6. doi: 10.1002/ccr3.6291

PMCID:: PMC9448962

Article PDF–573K

Select item 843667016.

Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome

Anna Lengyel, Éva Pinti, Thomas Eggermann, György Fekete, Irén Haltrich

Mol Syndromol. 2021 Aug; 12(5): 300–304. Published online 2021 Jul 15. doi: 10.1159/000515941

PMCID:: PMC8436670

Article PDF–234K

Select item 784710717.

Giant Anterior Fontanel Encephalocoele: A Rare Case Report and Review of Literature

Bikash R Behera, Sanjib Mishra, Manmath K Dhir, Jyotirmayee Biswal, Siba N Bhujabal

J Pediatr Neurosci. 2020 Jul-Sep; 15(3): 257–260. Published online 2020 Nov 6. doi: 10.4103/jpn.JPN_143_16

PMCID:: PMC7847107

Article

Select item 635285218.

Radiography of Chitayat syndrome in an infant male

Seong Hwan Shin, Emma StJoseph, Khalid Mannan, Khalid Khan

Radiol Case Rep. 2019 Apr; 14(4): 448–451. Published online 2019 Jan 24. doi: 10.1016/j.radcr.2019.01.003

PMCID:: PMC6352852

Article PDF–1.0M

Select item 563250419.

IMPLANT SUPPORTED PROSTHESIS IN A PATIENT WITH PROGERIA: CASE REPORT

Gözlem Ceylan, Nergiz Yılmaz, Özgün Şenyurt, Göknil Ergün Kunt

Bosn J Basic Med Sci. 2009 Aug; 9(3): 210–214. doi: 10.17305/bjbms.2009.2808

PMCID:: PMC5632504

Article PDF–146K

Select item 508395320.

Frank–ter Haar syndrome—additional findings?

Taha Emre Köse, Cemil İşler, Ş Neslihan Şenel, Tolga Şitilci, İlknur Özcan, Nihan Aksakallı

Dentomaxillofac Radiol. 2016 Feb; 45(2): 20150119. Published online 2015 Nov 18. doi: 10.1259/dmfr.20150119

PMCID:: PMC5083953

Article PDF–847K

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