Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa
Abstract
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicated in a similar phenotype. Studying FBLN4, FBLN5, and LTBP4 in 12 families with ARCL type I, we found bi-allelic FBLN5 mutations in two probands, whereas nine probands harbored biallelic mutations in...
Paper Details
Title
Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa
Published Date
Aug 13, 2012
Journal
Volume
34
Issue
1
Pages
111 - 121
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