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Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic cau...

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Detalles Bibliográficos
Autores principales:	Lima Cunha, Dulce, Alakloby, Omar Mohammed, Gruber, Robert, Kakar, Naseebullah, Ahmad, Jamil, Alawbathani, Salem, Plank, Roswitha, Eckl, Katja, Krabichler, Birgit, Altmüller, Janine, Nürnberg, Peter, Zschocke, Johannes, Borck, Guntram, Schmuth, Matthias, Alabdulkareem, Adnan S., Abdulaziz Alnutaifi, Kholood, Hennies, Hans Christian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418373/ https://www.ncbi.nlm.nih.gov/pubmed/30600594 http://dx.doi.org/10.1002/mgg3.539

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