Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Antley-Bixler-Syndrom 1

Das Antley-Bixler-Syndrom 1 ist eine autosomal rezessive Erkrankung, die durch Mutationen des POR-Gens hervorgerufen wird. Neben den typischen Skelettveränderungen finden sich häufig genitale Fehlbildungen aufgrund einer gestörten Steroidsynthese.

Gliederung

Knochendysplasie
Achondroplasie
Antley-Bixler-Syndrom 1
POR
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
Brachydaktylie Typ E2
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

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

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2.

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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3.

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

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4.

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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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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