Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia (Q44063133)

29 November 2017

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia (English)

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29 November 2017

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Antley-Bixler syndrome

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6

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29 November 2017

Richard I Kelley

1

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29 November 2017

Lisa E Kratz

2

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29 November 2017

Rivka L Glaser

3

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29 November 2017

Michael L Netzloff

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29 November 2017

Linda Miller Wolf

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29 November 2017

1 June 2002

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American Journal of Medical Genetics Part A

29 November 2017

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29 November 2017

110

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29 November 2017

2

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29 November 2017

95-102

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

29 November 2017

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https://api.crossref.org/works/10.1002%2FAJMG.10510

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

Progestins block cholesterol synthesis to produce meiosis-activating sterols

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

Differences in left-right axis pathways in mouse and chick: functions of FGF8 and SHH

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

Fluconazole-induced congenital anomalies in three infants

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha-demethylase, a cytochrome P450 whose expression is regulated by oxysterols.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10510

Assignment of FGF8 to human chromosome 10q25-q26: mutations in FGF8 may be responsible for some types of acrocephalosyndactyly linked to this region

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

The first case of the Antley-Bixler syndrome with a consanguinity in Japan

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10510

21 January 2018

Identifiers

DOI

10.1002/AJMG.10510

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29 November 2017

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