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Article

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

American journal of human genetics - 1 Jul 2009

Guernsey Duane L, Jiang Haiyan, Evans Susan C, Ferguson Meghan, Matsuoka Makoto, Nightingale Mathew, Rideout Andrea L, Provost Sylvie, Bedard Karen, Orr Andrew, Dubé Marie-Pierre, Ludman Mark, Samuels Mark E

Abstract excerpt

Autosomal-recessive cutis laxa type 2 (ARCL2) is a multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin, joint laxity, and a general developmental delay. Cutis laxa includes a family of clinically overlapping conditions with confusing nomenclature, generally requiring molecular analyses for definitive diagnosis. Six genes are currently known to mutate to yield one of...

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Identifiers

PMID: 19576563
DOI: 10.1016/j.ajhg.2009.06.008
PMCID: PMC2706970

Genes

PYCR1

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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