The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development-Reference-Cited by-同舟云学术

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The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development

Published:2013 Issue:3 Volume:80 Page:163-169
ISSN:1663-2826
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Yüksel Bilgin,Kulle Alexandra E.,Gürbüz Fatih,Welzel Maik,Kotan Damla,Mengen Eda,Holterhus Paul-Martin,Topaloglu Ali Kemal,Grötzinger Joachim,Riepe Felix G.

Publisher

S. Karger AG

Subject

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

Cited by 7 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. Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype–genotype correlation;Clinical Endocrinology;2024-02-18

2. Sex Hormones, Growth Hormone, and the Cornea;Cells;2022-01-11

3. Lipoid congenital adrenal hyperplasia: an uncommon cause of adrenal insufficiency;Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo;2022

4. Congenital Adrenal Hyperplasia;Pediatric Endocrinology;2018

5. A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia;Medicine;2017-05

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