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Article

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.

Biochemical genetics - 1 Aug 2024

Zhang Cuiping, Qiao Fengchang, Cheng Qing, Luo Chunyu, Zhang Qinxin, Hu Ping, Xu Zhengfeng

Abstract excerpt

Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by arachnodactyly, multiple joint contractures, progressive kyphoscoliosis, pectus deformity and abnormal crumpled ears. FBN2 is the only gene currently known to be associated with CCA. In this study, we report on a prenatal case presented with skeletal, cardiac and spinal malformations. And his father had elongated...

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Identifiers

PMID: 37962692
DOI: 10.1007/s10528-023-10550-2
PMCID: PMC11289072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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