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Report of two Syrian siblings with Mulibrey nanism

Mulibrey (MUscle–LIver–BRain–EYe) nanism is a rare autosomal recessive disease characterized by growth failure, dysmorphic features and a wide range of abnormalities affecting multiple organ systems. This report is the first to present two cases of Mulibrey nanism affecting two siblings from Syria....

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Detalles Bibliográficos
Autores principales: Al Saadi, Tareq, Alkhatib, Mahmoud, Turk, Tarek, Turkmani, Khaled, Abbas, Fatima, Khouri, Lina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672230/
https://www.ncbi.nlm.nih.gov/pubmed/26664725
http://dx.doi.org/10.1093/omcr/omv065