Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
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Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency
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Journal of Clinical Research in Pediatric Endocrinology, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Lu WL et al.
World Journal of Pediatrics : Wjp, 2024
Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
Sun B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review.
Alsanea MN et al.
Cureus, 2022
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Bulsari K et al.
Endocrine, 2017
Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.
Mooij CF et al.
Clinical Endocrinology, 2015
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.
Reisch N et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
[Substitution hormonal therapy in congenital adrenocortical hyperplasia, caused by 21-hydroxylase deficiency (lecture)].
Tiul'pakov AN
Problemy Endokrinologii, 0
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