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Type: Artigo de periódico
Title: Type II Autosomal Recessive Cutis Laxa: Report of Another Patient and Molecular Studies Concerning Three Candidate Genes
Author: Scherrer, DZ
Alexandrino, F
Cintra, ML
Sartorato, EL
Steiner, CE
Abstract: 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 detail. No causative mutations were identified. (c) 2008 Wiley-Liss, Inc.
Subject: cutis laxa
wrinkly skin syndrome
gerodermia osteodysplastica
Country: EUA
Editor: Wiley-blackwell
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.32345
Date Issue: 2008
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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