Open AccessClinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients
Author(s) -
Taninee Sahakitrungruang,
Ningwu Huang,
Meng Kian Tee,
Vishal Agrawal,
William E. Russell,
Patricia Crock,
Nuala Murphy,
Claude J. Migeon,
Walter L. Miller
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-1460
Subject(s) - oxidoreductase , enzyme , medicine , biology , biochemistry
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom