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Genetic models of fibrillinopathies.
Summers KM. Summers KM. Genetics. 2024 Jan 3;226(1):iyad189. doi: 10.1093/genetics/iyad189. Genetics. 2024. PMID: 37972149 Free PMC article. Review.
There are also natural bovine models and engineered models in pig and rabbit. Variants in FBN2 encoding fibrillin-2 cause congenital contractural arachnodactyly and mouse models for this condition have also been produced. ...
There are also natural bovine models and engineered models in pig and rabbit. Variants in FBN2 encoding fibrillin-2 cause congenital …
The fibrillins.
Ramirez F, Pereira L. Ramirez F, et al. Int J Biochem Cell Biol. 1999 Feb;31(2):255-9. doi: 10.1016/s1357-2725(98)00109-5. Int J Biochem Cell Biol. 1999. PMID: 10216958 Review.
Fibrillin-1 mutations result in the pleiotropic manifestations of Marfan syndrome, and fibrillin-2 alterations cause the overlapping phenotype of congenital contractural arachnodactyly. It is hypothesized that fibrillin-2 guides elastogenesis, whereas fibrill …
Fibrillin-1 mutations result in the pleiotropic manifestations of Marfan syndrome, and fibrillin-2 alterations cause the overlapping phenoty …
Congenital contractural arachnodactyly (Beals syndrome).
Tunçbilek E, Alanay Y. Tunçbilek E, et al. Orphanet J Rare Dis. 2006 Jun 1;1:20. doi: 10.1186/1750-1172-1-20. Orphanet J Rare Dis. 2006. PMID: 16740166 Free PMC article. Review.
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. ...
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder …
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galán F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM. Callewaert BL, et al. Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Hum Mutat. 2009. PMID: 19006240 Review.
Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. ...
Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue di …
Beals-Hecht syndrome.
Jones JL, Lane JE, Logan JJ, Vanegas ME. Jones JL, et al. South Med J. 2002 Jul;95(7):753-5. South Med J. 2002. PMID: 12144083 Review.
Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. ...
Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Ma …
Congenital contractural arachnodactyly (Beals syndrome).
Viljoen D. Viljoen D. J Med Genet. 1994 Aug;31(8):640-3. doi: 10.1136/jmg.31.8.640. J Med Genet. 1994. PMID: 7815423 Free PMC article. Review.
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. ...
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, M …
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
Peeters S, De Kinderen P, Meester JAN, Verstraeten A, Loeys BL. Peeters S, et al. Hum Mutat. 2022 Jul;43(7):815-831. doi: 10.1002/humu.24383. Epub 2022 Apr 28. Hum Mutat. 2022. PMID: 35419902 Free PMC article. Review.
Similarly, pathogenic variants in the fibrillin-2 gene (FBN2) cause either a Marfanoid congenital contractural arachnodactyly or a FBN2-related acromelic dysplasia that most prominently presents with brachydactyly. ...
Similarly, pathogenic variants in the fibrillin-2 gene (FBN2) cause either a Marfanoid congenital contractural arachnodacty …
Congenital contractural arachnodactyly.
Kulkarni ML, Kumar CS, Venkataramana V, George VG, Bhagyavathi M. Kulkarni ML, et al. Indian Pediatr. 1995 Jan;32(1):82-7. Indian Pediatr. 1995. PMID: 8617541 Review. No abstract available.
Fibrillin microfibrils in bone physiology.
Smaldone S, Ramirez F. Smaldone S, et al. Matrix Biol. 2016 May-Jul;52-54:191-197. doi: 10.1016/j.matbio.2015.09.004. Epub 2015 Sep 25. Matrix Biol. 2016. PMID: 26408953 Free PMC article. Review.
The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA) underscore the notion that fibrillin assemblies (microfibrils and elastic fibers) play a critical role in bone formation and function in s …
The severe skeletal abnormalities associated with Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA …
21 results