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...
Main Authors: | Chan, Li F., Campbell, Daniel C., Novoselova, Tatiana V., Clark, Adrian J. L., Metherell, Louise A. |
---|---|
Format: | Online |
Language: | English |
Published: |
Frontiers Media S.A.
2015
|
Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525066/ |
Similar Items
-
Bilateral Primary Adrenal Lymphoma Presenting with Adrenal Insufficiency
by: Holm, Jakob, et al.
Published: (2012) -
Hyperkalemic paralysis in primary adrenal insufficiency
by: Mishra, Ajay, et al.
Published: (2014) -
Delay in Diagnosis of Adrenal Insufficiency Is a Frequent Cause of Adrenal Crisis
by: Papierska, Lucyna, et al.
Published: (2013) -
Whole exome sequencing in the rat
by: Julie F. Foley, et al.
Published: (2018-06-01) -
Bilateral primary adrenal non-Hodgkin's lymphoma without adrenal insufficiency
by: Simpson, William Greg, et al.
Published: (2015)