New Compound Heterozygous Mutation in the <i>CYP17</i> Gene in a 46,XY Girl with 17α-Hydroxylase/17,20-Lyase Deficiency-Reference-Cited by-同舟云学术

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New Compound Heterozygous Mutation in the CYP17 Gene in a 46,XY Girl with 17α-Hydroxylase/17,20-Lyase Deficiency

Published:2001 Issue:3 Volume:55 Page:141-146
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Katsumata Noriyuki,Satoh Mari,Mikami Atsushi,Mikami Shoko,Nagashima-Miyokawa Atsuko,Sato Naoko,Yokoya Susumu,Tanaka Toshiaki

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature;Frontiers in Endocrinology;2022-10-19

2. Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency;Journal of Pediatric Endocrinology and Metabolism;2020-07-11

3. Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis;Gynecological Endocrinology;2018-01-18

4. Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency;Endocrinology and Metabolism;2018

5. Molecular regulation of steroidogenesis in endocrine Leydig cells;Steroids;2015-11

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