FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations

FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations

Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 (FBN2) gene, characterized by crumpled ears, arachnodactyly, camptodactyly, dolichostenomelia, large-joint contractures and thoracolumbar scoliosis....

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Bibliografske podrobnosti
Main Authors: Yazhou Huang, Xingxin Fang, Linya Ma, Jibo Zhang, Chao Wang, Taoran Gao, Dan Peng
Format: Article
Jezik:English
Izdano: Elsevier 2025-03-01
Serija:Molecular Genetics and Metabolism Reports
Teme:
Congenital contractural arachnodactyly
FBN2
Whole-exome sequencing
Sanger sequencing
Splicing
Online dostop:http://www.sciencedirect.com/science/article/pii/S2214426925000084

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http://www.sciencedirect.com/science/article/pii/S2214426925000084

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