Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

Adrenal hypoplasia congenita (AHC) is a rare disorder. The X-linked form is related to mutations in the DAX1 (NROB1) gene. Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1 (c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congen...

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Bibliografiske detaljer
Main Authors:	Evliyaoğlu, Olcay, Dokurel, İpek, Bucak, Feride, Özcabı, Bahar, Ercan, Oya, Ceylaner, Serdar
Format:	Artigo
Sprog:	Inglês
Udgivet:	Galenos Publishing 2013
Fag:	Case Report
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3628394/ https://ncbi.nlm.nih.gov/pubmed/23367499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/Jcrpe.895
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Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

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