COMPREHENSIVE CLINICAL AND MOLECULAR ANALYSIS OF 12 FAMILIES WITH TYPE 1 RECESSIVE CUTIS LAXA

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 a...

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Bibliografski detalji
Glavni autori: Callewaert, Bert, Su, Chi-Ting, Van Damme, Tim, Vlummens, Philip, Malfait, Fransiska, Vanakker, Olivier, Schulz, Bianca, Neal, Meghan Mac, 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
Format: Artigo
Jezik:Inglês
Izdano: 2012
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4105850/
https://ncbi.nlm.nih.gov/pubmed/22829427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22165
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