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Article

Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.

American journal of medical genetics. Part A - 1 Nov 2008

Scherrer Daniel Zanetti, Alexandrino Fabiana, Cintra Maria Letícia, Sartorato Edi Lúcia, Steiner Carlos Eduardo

Abstract excerpt

Cutis laxa is a rare disorder of connective tissue in which the skin sags excessively, giving the individual an aged appearance. In the present study we analyzed three unrelated families with type II autosomal recessive cutis laxa for mutations in three genes implicated in other forms of cutis laxa; LOX, FBLN4, and FBLN5 genes. Two individuals have been previously reported, and the third case is described in...

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Source

Identifiers

PMID: 18819152
DOI: 10.1002/ajmg.a.32345

Genes

FBLN5
LOX

Provenance

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

Source receipt: pubmed, retrieved 5 Sept 2026.

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