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Article

A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly.

Genetic testing and molecular biomarkers - 1 Jun 2009

Chen Ying, Lei Yun-Ping, Zheng Hong-Xiang, Wang Wei, Cheng Hong-Bo, Zhang Jing, Wang Hong-Yan, Jin Li, Li Hong

Abstract excerpt

Congenital contractural arachnodactyly (Beals syndrome) is a rare autosomal dominantly inherited connective tissue disorder characterized by flexion contractures, arachnodactyly, crumpled ears, and mild muscular hypoplasia. Here, a father and son with congenital contractural arachnodactyly features were identified. After sequencing 15 exons (22 to 36) of the FBN2 gene, a novel mutation (C1425Y) was found in exon...

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Source

Identifiers

PMID: 19473076
DOI: 10.1089/gtmb.2008.0132

Genes

FBN2
FBN1

Provenance

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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A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly.PMID 19473076Read ↗

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