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Article

Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.

Human molecular genetics - 1 Apr 2001

Chaudhry S S, Gazzard J, Baldock C, Dixon J, Rock M J, Skinner G C, Steel K P, Kielty C M, Dixon M J

Abstract excerpt

Fibrillins are large, cysteine-rich glycoproteins that form microfibrils and play a central role in elastic fibrillogenesis. Fibrillin-1 and fibrillin-2, encoded by FBN1 on chromosome 15q21.1 and FBN2 on chromosome 5q23-q31, are highly similar proteins. The finding of mutations in FBN1 and FBN2 in the autosomal dominant microfibrillopathies Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA),...

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Source

Identifiers

PMID: 11285249
DOI: 10.1093/hmg/10.8.835

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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