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Article

Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.

American journal of medical genetics. Part A - 1 May 2013

Sawyer Sarah L, Dicke Frank, Kirton Adam, Rajapkse Thilinie, Rebeyka Ivan M, McInnes Brenda, Parboosingh Jillian S, Bernier Francois P

Abstract excerpt

Autosomal recessive cutis laxa (ARCL) is a clinically and genetically heterogeneous group of disorders characterized by loose, inelastic skin and variable systemic involvement and severity. Mutations in the FBLN4 gene are associated with ARCL1B. Fibulin-4 is important in elastic fiber formation a...

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PMID: 23532871
DOI: 10.1002/ajmg.a.35827

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23532871-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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