(Q37079664)

18 August 2017

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title

Genetic and clinical features of p450 oxidoreductase deficiency (English)

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18 August 2017

Rachel R Scott

1

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18 August 2017

Walter L Miller

series ordinal

2

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18 August 2017

publication date

6 February 2008

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18 August 2017

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18 August 2017

volume

69

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18 August 2017

issue

5

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18 August 2017

page(s)

266-275

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Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein

18 August 2017

cites work

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Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

21 January 2018

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P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations

21 January 2018

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Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer

21 January 2018

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P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.

21 January 2018

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Steroid 17 alpha-hydroxylase and 17,20-lyase activities of P450c17: contributions of serine106 and P450 reductase

21 January 2018

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Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

21 January 2018

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Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis

21 January 2018

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Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase

21 January 2018

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Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

21 January 2018

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FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome

21 January 2018

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Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

21 January 2018

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Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus

21 January 2018

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A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 January 2018

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The genetic and functional basis of isolated 17,20-lyase deficiency

21 January 2018

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Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1159/000114857

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18 August 2017

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