Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.

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Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.

P2860

Q37698004-4BF4BFF4-8E03-499C-B4B7-4494AFCFEA0A

P2860

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.

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description

2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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name

Compound heterozygosity of a p ...... type in three sibling fetuses.

@en

Compound heterozygosity of a p ...... type in three sibling fetuses.

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type

Item

label

Compound heterozygosity of a p ...... type in three sibling fetuses.

@en

Compound heterozygosity of a p ...... type in three sibling fetuses.

@nl

prefLabel

Compound heterozygosity of a p ...... type in three sibling fetuses.

@en

Compound heterozygosity of a p ...... type in three sibling fetuses.

@nl

P1476

Compound heterozygosity of a p ...... type in three sibling fetuses.

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P2093

Anastasia Konstantinidou

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Anastasios Mitrakos

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Christalena Sofocleous

http://www.w3.org/2001/XMLSchema#string

Christina Tzannatos

http://www.w3.org/2001/XMLSchema#string

Konstantina Kosma

http://www.w3.org/2001/XMLSchema#string

Sofia Kitsiou-Tzeli

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P2860

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

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

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Consequences of POR mutations and polymorphisms.

Genetic and clinical features of p450 oxidoreductase deficiency.

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

Proximal promoter of the cytochrome P450 oxidoreductase gene: identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding sites.

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

P304

536-541

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scholarly article

P356

10.1002/BDRA.23492

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106

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Maria Tzetis

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2016-03-11T00:00:00Z

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298056508

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26969897

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P921

sibling

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.

about

P2860

P2860

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921