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

CONTEXT: Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions is poorly understood. OBJECTIVE: We investigated genetic causes of PAI in c...

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Detalles Bibliográficos
Autores principales: Buonocore, Federica, Maharaj, Avinaash, Qamar, Younus, Koehler, Katrin, Suntharalingham, Jenifer P, Chan, Li F, Ferraz-de-Souza, Bruno, Hughes, Claire R, Lin, Lin, Prasad, Rathi, Allgrove, Jeremy, Andrews, Edward T, Buchanan, Charles R, Cheetham, Tim D, Crowne, Elizabeth C, Davies, Justin H, Gregory, John W, Hindmarsh, Peter C, Hulse, Tony, Krone, Nils P, Shah, Pratik, Shaikh, M Guftar, Roberts, Catherine, Clayton, Peter E, Dattani, Mehul T, Thomas, N Simon, Huebner, Angela, Clark, Adrian J, Metherell, Louise A, Achermann, John C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8266051/
https://www.ncbi.nlm.nih.gov/pubmed/34258490
http://dx.doi.org/10.1210/jendso/bvab086