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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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Vydáno v:Front Endocrinol (Lausanne)
Hlavní autoři: Chan, Li F., Campbell, Daniel C., Novoselova, Tatiana V., Clark, Adrian J. L., Metherell, Louise A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4525066/
https://ncbi.nlm.nih.gov/pubmed/26300845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2015.00113
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