An Update on the Molecular Genetics of Congenital Adrenal Hyperplasia: Diagnostic and Therapeutic Aspects
Author:
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
https://www.degruyter.com/document/doi/10.1515/JPEM.1998.11.5.581/pdf
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1. Molecular Biology of Steroid Hormone Synthesis*
2. CLOSE GENETIC LINKAGE BETWEEN HLA AND CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY)
3. Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man.
4. Structure of human steroid 21-hydroxylase genes
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2. Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency;Molecular Diagnosis & Therapy;2023-08-07
3. Genotype‐phenotype association in congenital adrenal hyperplasia due to 21‐hydroxylase deficiency in children;Clinical Endocrinology;2022-12-15
4. 2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report;World Journal of Clinical Cases;2021-08-16
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