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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...
Autores principales: | Chan, Li F., Campbell, Daniel C., Novoselova, Tatiana V., Clark, Adrian J. L., Metherell, Louise A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2015
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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 |
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