Código QR (código de barras bidimensional)

Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families

Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to investigate the variants in three Chinese families with CCA. Methods: Next-generation sequencing analysis and Sanger sequencing...

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Principais autores: Yu Sui, Yongping Lu, Meina Lin, Xinren Chen, Xiang Ni, Huan Li, Miao Jiang
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2024-12-01
Serier:Molecular Genetics and Metabolism Reports
Fag:
Congenital contractural arachnodactyly (CCA)
FBN2
Heterogeneity
Online adgang:http://www.sciencedirect.com/science/article/pii/S2214426924000934
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