Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects-Reference-Cited by-同舟云学术

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Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects

Published:2014-12 Issue:6 Volume:56 Page:805-808
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatr Int

Author:

Fukami Maki¹,Ogata Tsutomu¹²

Affiliation:

1. Department of Molecular Endocrinology; National Research Institute for Child Health and Development; Tokyo Japan

2. Department of Pediatrics; Hamamatsu University School of Medicine; Hamamatsu Japan

Funder

Japan Society for the Promotion of Science and from the Ministry of Education, Culture, Sports, Science and Technology

Grant of National Center for Child Health and Development

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12518/fullpdf

Reference24 articles.

1. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome;Flück;Nat. Genet.,2004

2. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: Analytical study;Arlt;Lancet,2004

3. P450 oxidoreductase deficiency: A new disorder of steroidogenesis with multiple clinical manifestations;Miller;Trends Endocrinol. Metab.,2004

4. Genetic and clinical features of P450 oxidoreductase deficiency;Scott;Horm. Res.,2008

5. Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis;Huang;Am. J. Hum. Genet.,2005

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1. Computational identification and analysis of deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in the human POR gene: a structural and functional impact;Journal of Biomolecular Structure and Dynamics;2023-05-12

2. Congenital Arenal Hyperplasia Due to P450 Oxidoreductase Deficiency;Genetic Syndromes;2023

3. Infertility treatment for Chinese women with P450 oxidoreductase deficiency: Prospect on clinical management from IVF to FET;Frontiers in Endocrinology;2022-12-22

4. Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46 XX Patients;2022-11-03

5. Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report;Translational Pediatrics;2021-12

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