Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Antley-Bixler syndrome 1 is an autosomal recessive disorder caused by mutations of the POR gene. Aside of the typical dysmorphic skeletal features, type 1 is characterized by genital abnormalities that are more common with the female karyotype due to impaired steroidogenesis.
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Shen AL et al. (2002) Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase.
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Kelley RI et al. (2002) Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
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Otto DM et al. (2003) Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis.
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Hurley ME et al. (2004) Antley-Bixler syndrome with radioulnar synostosis.
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Flück CE et al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
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Huang N et al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
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Aleck KA et al. (1997) Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient.
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Shackleton C et al. (2004) Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.
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McGlaughlin KL et al. (2010) Spectrum of Antley-Bixler syndrome.
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OMIM.ORG article Omim 201750
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Orphanet article Orphanet ID 83
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