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Article

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.

American journal of medical genetics - 1 May 2000

Belleh S, Zhou G, Wang M, Der Kaloustian V M, Pagon R A, Godfrey M

Abstract excerpt

Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder, comprising marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. It is now known that mutations in the gene encoding fibrillin-2 cause CCA. Interestingly, mutations described to date cluster in the fibrillin-2 region homologous to the so-called neonatal Marfan...

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Source

Identifiers

PMID: 10797416

Genes

FBN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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