A Novel A10E Homozygous Mutation in the HSD3B2 Gene Causing Severe Salt-Wasting 3 -Hydroxysteroid Dehydrogenase Deficiency in 46,XX and 46,XY French-Canadians: Evaluation of Gonadal Function after Puberty
Author:
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. Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study;Journal of Endocrinological Investigation;2023-04-13
2. Bioinformatics analysis and verification of hub genes in 46,XY, disorders of sexual development;Reproduction, Fertility and Development;2023-02-14
3. Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia;Genes;2022-11-23
4. Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria;Frontiers in Endocrinology;2022-06-10
5. 3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting;Sexual Development;2021-10-08
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