An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency
Author:
Publisher
Elsevier BV
Subject
Molecular Medicine,Pathology and Forensic Medicine
Reference36 articles.
1. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency;White;Endocr Rev,2000
2. Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease;Lopez-Gutierrez;J Med Genet,1998
3. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene;Higashi;Proc Natl Acad Sci USA,1986
4. Structure of human steroid 21-hydroxylase genes;White;Proc Natl Acad Sci USA,1986
5. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype;Wilson;J Clin Endocrinol Metab,1995
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1. In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant;International Journal of Molecular Sciences;2020-08-14
2. Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected;Frontiers in Pediatrics;2020-08-12
3. The Frequency and the Effects of 21-Hydroxylase Gene Defects in Congenital Adrenal Hyperplasia Patients;Annals of Human Genetics;2014-09-17
4. A case with combined rare inborn metabolic disorders: Congenital adrenal hyperplasia and ornithine transcarbamylase deficiency;Gene;2013-09
5. Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency;BMC Medical Genetics;2010-06-29
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