Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

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 a...

Descripción completa

Detalles Bibliográficos
Autores principales: Salih, Mustafa A, Abu-Amero, Khaled K, Alrasheed, Saleh, Alorainy, Ibrahim A, Liu, Lu, McGrath, John A, Van Maldergem, Lionel, Al-Fakey, Yasser H, AlSuhaibani, Adel H, Oystreck, Darren T, Bosley, Thomas M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3050790/
https://www.ncbi.nlm.nih.gov/pubmed/21349189
http://dx.doi.org/10.1186/1471-2350-12-31

Ejemplares similares

Ejemplares similares