Varied Clinical Presentations of Seven Patients With Mutations inCYP11A1Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc-Reference-Cited by-同舟云学术

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Varied Clinical Presentations of Seven Patients With Mutations inCYP11A1Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc

Published:2013-02 Issue:2 Volume:98 Page:713-720
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

Tee Meng Kian,Abramsohn Michal,Loewenthal Neta,Harris Mark,Siwach Sudeep,Kaplinsky Ana,Markus Barak,Birk Ohad,Sheffield Val C.,Pavari Ruti,Hershkovitz Eli,Miller Walter L.

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 54 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. A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia;Heliyon;2024-08

2. Reaction thermodynamics as a constraint on piscine steroidogenesis flux distributions;Comparative Biochemistry and Physiology Part A: Molecular & Integrative Physiology;2024-01

3. Differences in Sex Development;Avery's Diseases of the Newborn;2024

4. Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome;Frontiers in Endocrinology;2023-12-21

5. Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 side-chain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl;Journal of Genetic Medicine;2023-06-30

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