Article
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
Human mutation - 1 Jan 2013
Callewaert Bert, Su Chi-Ting, Van Damme Tim, Vlummens Philip, Malfait Fransiska, Vanakker Olivier, Schulz Bianca, Mac Neal Meghan, Davis Elaine C, Lee Joseph G H, Salhi Aicha, Unger Sheila, Heimdal Ketil, De Almeida Salome, Kornak Uwe, Gaspar Harald, Bresson Jean-Luc, Prescott Katrina, Gosendi Maria E, Mansour Sahar, Piérard Gérald E, Madan-Khetarpal Suneeta, Sciurba Frank C, Symoens Sofie, Coucke Paul J, Van Maldergem Lionel, Urban Zsolt, De Paepe Anne
Abstract excerpt
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...
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