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

@inproceedings{Chan2015WholeExomeSI,
  title={Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children},
  author={Li Fang. Chan and Daniel Charles Campbell and Tatiana Vladislavovna Novoselova and Adrian J. L. Clark and Louise A Metherell},
  booktitle={Front. Endocrinol.},
  year={2015}
}
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 characteristics. The evolution of adrenal insufficiency is dependent on the variant and the particular gene affected, meaning that rapid and accurate diagnosis is imperative for effective treatment of… CONTINUE READING

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