Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

<p>Abstract</p> <p>Background</p> <p>Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the <it>ECM1...

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Main Authors: Al-Fakey Yasser H, Van Maldergem Lionel, McGrath John A, Liu Lu, Alorainy Ibrahim A, Alrasheed Saleh, Abu-Amero Khaled K, Salih Mustafa A, AlSuhaibani Adel H, Oystreck Darren T, Bosley Thomas M
Format: Article
Language:English
Published: BMC 2011-02-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/12/31

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http://www.biomedcentral.com/1471-2350/12/31

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