Thirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenita-Reference-Cited by-同舟云学术

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Thirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenita

Published:2005-04-19 Issue:5 Volume:25 Page:502-502
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Krone Nils,Riepe Felix Günther,Dörr Helmuth-Günther,Morlot Michel,Rudorff Karl-Heinz,Drop Stenvert L.S.,Weigel Johannes,Pura Mikulas,Kreze Alexander,Boronat Mauro,de Luca Filippo,Tiulpakov Anatoly,Partsch Carl-Joachim,Peter Michael,Sippell Wolfgang G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 19 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 phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients;Journal of Medical Genetics;2023-08-16

2. Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita;Orphanet Journal of Rare Diseases;2023-05-26

3. Case report: Clinical characteristics and treatment of secondary osteoporosis induced by X-linked congenital adrenal dysplasia;Frontiers in Endocrinology;2022-12-08

4. Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia;Scientific Reports;2021-08-09

5. Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children;Journal of Pediatric Endocrinology and Metabolism;2019-08-27

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