Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly

Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants in FBN2 have been shown to cause CCA. Fibrill...

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Detalles Bibliográficos
Autores principales: Li, An-Lei, He, Ji-Qiang, Zeng, Lei, Hu, Yi-Qiao, Wang, Min, Long, Jie-Yi, Chang, Si-Hua, Jin, Jie-Yuan, Xiang, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020613/
https://www.ncbi.nlm.nih.gov/pubmed/36936417
http://dx.doi.org/10.3389/fgene.2023.1035887

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10020613/
https://www.ncbi.nlm.nih.gov/pubmed/36936417
http://dx.doi.org/10.3389/fgene.2023.1035887

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