Mutational Spectrum of the Steroid 21-Hydroxylase Gene in Austria: Identification of a Novel Missense Mutation-Reference-Cited by-同舟云学术

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Mutational Spectrum of the Steroid 21-Hydroxylase Gene in Austria: Identification of a Novel Missense Mutation

Published:2001-10 Issue:10 Volume:86 Page:4771-4775
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

Baumgartner-Parzer S. M.,Schulze E.,Waldhäusl W.,Pauschenwein S.,Rondot S.,Nowotny P.,Meyer K.,Frisch H.,Waldhauser F.,Vierhapper H.

Publisher

The Endocrine Society

Subject

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

Cited by 35 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. Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Frontiers in Endocrinology;2023-03-17

2. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management;Endocrine Reviews;2021-05-07

3. Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele;Clinical Pediatric Endocrinology;2021

4. Nonvirilized Genitalia in 3 Female Newborns With the Salt-Wasting Congenital Adrenal Hyperplasia Phenotype;Journal of the Endocrine Society;2020-11-05

5. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency;European Journal of Human Genetics;2020-07-02

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