X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

X-linked Adrenal Hypoplasia Congenita (AHC) is caused by deletions or point mutations in the NR0B1 (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. Laboratory studies showed prominent hyponatremia and hyper...

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Autores principales: Rojek, Aleksandra, Krawczynski, Maciej R., Jamsheer, Aleksander, Sowinska-Seidler, Anna, Iwaniszewska, Barbara, Malunowicz, Ewa, Niedziela, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021503/
https://www.ncbi.nlm.nih.gov/pubmed/27656210
http://dx.doi.org/10.1155/2016/5178953

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