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Article

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

Human mutation - 1 Jan 2002

Gupta Prateek A, Putnam Elizabeth A, Carmical Sonya G, Kaitila Ilkka, Steinmann Beat, Child Anne, Danesino Cesare, Metcalfe Kay, Berry Susan A, Chen Emily, Delorme Catherine Vincent, Thong Meow-Keong, Adès Lesley C, Milewicz Dianna M

Abstract excerpt

Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS. CCA and MFS result from mutations in highly similar genes, FBN2 and FBN1,...

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Source

Identifiers

PMID: 11754102
DOI: 10.1002/humu.10017

Genes

FBN2
FBN1
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-11754102-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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