Antley-Bixler-Syndrom 1

Reardon W et al. (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Shen AL et al. (2002) Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase.

Kelley RI et al. (2002) Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

Otto DM et al. (2003) Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis.

Hurley ME et al. (2004) Antley-Bixler syndrome with radioulnar synostosis.

Flück CE et al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

Huang N et al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Aleck KA et al. (1997) Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient.

Shackleton C et al. (2004) Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.

McGlaughlin KL et al. (2010) Spectrum of Antley-Bixler syndrome.

OMIM.ORG article

Orphanet article