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Results 1 - 3 of 3 for "Antley-Bixler" syndrome
Did you mean "mantle-Bixler" syndrome?
  1. Cytochrome P450 oxidoreductase deficiency 
    ... of cytochrome P450 oxidoreductase deficiency is sometimes called Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Hormonal changes ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  2. POR gene 
    ... P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar;36(3):228-30. ... Ogata T. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular ...
    https://medlineplus.gov/genetics/gene/por - Genetics
  3. FGFR2 gene 
    ... with conditions called bent bone dysplasia syndrome and Antley-Bixler syndrome.Bent bone dysplasia syndrome is characterized by the ... and distinctive facial features. Signs and symptoms of Antley-Bixler syndrome typically include craniosynostosis, distinctive facial features, arm and ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics