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A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism

Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay. Laboratory tests reveale...

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Detalles Bibliográficos
Autores principales:	Alfaraidi, Lama, Alfaifi, Abrar, Alquaiz, Rawan, Almijmaj, Faten, Mawlawi, Horia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5672603/ https://www.ncbi.nlm.nih.gov/pubmed/29201470 http://dx.doi.org/10.1155/2017/8431475

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