Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency

CONTEXT: Cholesterol side-chain cleavage enzyme (P450scc), encoded by CYP11A1, catalyzes the first step of steroidogenesis. Complete P450scc deficiency leads to primary adrenal insufficiency (PAI) and 46,XY disordered sexual development. Partial impairment can cause variable adrenal and gonadal dysf...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Kolli, Vipula, Kim, Hannah, Torky, Ahmed, Lao, Qizong, Tatsi, Christina, Mallappa, Ashwini, Merke, Deborah P
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2018
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6607962/
https://ncbi.nlm.nih.gov/pubmed/30299480
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-01661
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