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Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Federica BuonocoreAvinaash V MaharajYounus QamarKatrin KoehlerJenifer P SuntharalinghamLi F ChanBruno Ferraz-de-SouzaClaire R HughesLin LinRathi PrasadJeremy AllgroveEdward Thomas AndrewsCharles R BuchananTimothy D CheethamElizabeth C CrowneJustin Huw DaviesJohn W GregoryPeter C HindmarshTony HulseNils P KronePrateek ShanmuganandaMohamad Guftar ShaikhCatherine RobertsPeter Ellis ClaytonMehul Tulsidas DattaniN Simon ThomasAngela HuebnerAdrian J L ClarkLouise A MetherellJohn C Achermann
Published in: Journal of the Endocrine Society (2021)
PAI in children and young people often has a genetic basis. Establishing the specific etiology can influence management of this lifelong condition. NGS approaches improve the diagnostic yield when many potential candidate genes are involved.
Keyphrases
  • young adults
  • genome wide
  • copy number
  • human health
  • risk assessment
  • climate change