Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

OBJECTIVE: CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified by HaloPlex targeted capture array. FAMILY STUDY: The youngest of three brothe...

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Detalles Bibliográficos
Autores principales: Kallali, Wafa, Gray, Ewan, Mehdi, Muhammad Zain, Lindsay, Robert, Metherell, Louise A, Buonocore, Federica, Suntharalingham, Jenifer P, Achermann, John C, Donaldson, Malcolm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7087497/
https://www.ncbi.nlm.nih.gov/pubmed/31917682
http://dx.doi.org/10.1530/EJE-19-0696

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7087497/
https://www.ncbi.nlm.nih.gov/pubmed/31917682
http://dx.doi.org/10.1530/EJE-19-0696

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