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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Detalles Bibliográficos
Autores principales: Evliyaoğlu, Olcay, Dokurel, İpek, Bucak, Feride, Özcabı, Bahar, Ercan, Oya, Ceylaner, Serdar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628394/
https://www.ncbi.nlm.nih.gov/pubmed/23367499
http://dx.doi.org/10.4274/Jcrpe.895

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628394/
https://www.ncbi.nlm.nih.gov/pubmed/23367499
http://dx.doi.org/10.4274/Jcrpe.895

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