Article
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.
BMC medical genetics - 24 Feb 2011
Salih Mustafa A, Abu-Amero Khaled K, Alrasheed Saleh, Alorainy Ibrahim A, Liu Lu, McGrath John A, Van Maldergem Lionel, Al-Faky Yasser H, AlSuhaibani Adel H, Oystreck Darren T, Bosley Thomas M
Abstract excerpt
BACKGROUND: 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 ECM1 gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic...
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