Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency-Reference-Cited by-同舟云学术

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Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Published:2013-01-28 Issue:7 Volume:110 Page:2611-2616
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

New M. I.,Abraham M.,Gonzalez B.,Dumic M.,Razzaghy-Azar M.,Chitayat D.,Sun L.,Zaidi M.,Wilson R. C.,Yuen T.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Reference38 articles.

1. Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients

2. Phenotype-Genotype Correlations of 13 Rare CYP21A2 Mutations Detected in 46 Patients Affected with 21-Hydroxylase Deficiency and in One Carrier

3. A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

4. Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus.

5. Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.

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1. Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing;The Journal of Molecular Diagnostics;2024-09

2. Current Advances in the Management of Congenital Adrenal Hyperplasia;Advances in Pediatrics;2024-08

3. Simple-Virilizing Congenital adrenal hyperplasia sustained by five mutations on the CYP21A2 gene;Biomedical Research and Therapy;2024-07-31

4. Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort;The Journal of Clinical Endocrinology & Metabolism;2024-07-25

5. A quantitative modeling framework to understand the physiology of the hypothalamic-pituitary-adrenal axis and interaction with cortisol replacement therapy;Journal of Pharmacokinetics and Pharmacodynamics;2024-07-08

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