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Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children

Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that share adrenal insufficiency as one of the main ch...

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Detalles Bibliográficos
Autores principales: Chan, Li F., Campbell, Daniel C., Novoselova, Tatiana V., Clark, Adrian J. L., Metherell, Louise A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525066/
https://www.ncbi.nlm.nih.gov/pubmed/26300845
http://dx.doi.org/10.3389/fendo.2015.00113