Clinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients

Context: P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility. Objective: We describe four patients with POR deficiency...

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Detalhes bibliográficos
Main Authors: Sahakitrungruang, Taninee, Huang, Ningwu, Tee, Meng Kian, Agrawal, Vishal, Russell, William E., Crock, Patricia, Murphy, Nuala, Migeon, Claude J., Miller, Walter L.
Formato: Artigo
Idioma:Inglês
Publicado em: The Endocrine Society 2009
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2795645/
https://ncbi.nlm.nih.gov/pubmed/19837910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-1460
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