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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Galenos Publishing
2013
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| Materias: | |
| 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 |