Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis-Reference-Cited by-同舟云学术

Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis

Published:2020-08-21 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Song Fuying,Feng Shunqiao,Shen Xiang,Du Mu,Yin Hui,Liu Rong,Chen Xiaobo

Publisher

Frontiers Media SA

Subject

Genetics(clinical),Genetics,Molecular Medicine

Reference17 articles.

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

3. Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.;Bai;J. Ovarian Res.,2017

4. Hereditary spherocytosis–defects in proteins that connect the membrane skeleton to the lipid bilayer.;Eber;Semin. Hematol.,2004

5. Congenital adrenal hyperplasia.;El-Maouche;Lancet,2017

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1. Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome;BMC Pediatrics;2024-08-20

2. Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature;Journal of Endocrinological Investigation;2022-07-17

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