Study of a Kindred with Classic Congenital Adrenal Hyperplasia: Diagnostic Challenge due to Phenotypic Variance
Author:
Publisher
The Endocrine Society
Subject
Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism
Cited by 27 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. Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning;JAMA Network Open;2020-11-18
2. Combined homozygous 21 hydroxylase with heterozygous P450 oxidoreductase mutation in a Saudi boy presented with hypertension;BMJ Case Reports;2020-09
3. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia;The Journal of Steroid Biochemistry and Molecular Biology;2017-01
4. Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia;Endocrine Connections;2014-06
5. Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening;Clinical Genetics;2011-06-03
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