Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

• Main Authors: Al-Fakey Yasser H (Author), Van Maldergem Lionel (Author), McGrath John A (Author), Liu Lu (Author), Alorainy Ibrahim A (Author), Alrasheed Saleh (Author), Abu-Amero Khaled K (Author), Salih Mustafa A (Author), AlSuhaibani Adel H (Author), Oystreck Darren T (Author), Bosley Thomas M (Author)
• Format: Book
• Published: BMC, 2011-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...