Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase
Author:
Publisher
Informa UK Limited
Subject
Endocrinology,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.3109/07435809509030452
Reference9 articles.
1. Analysis of Mutations Causing Steroid 21-hydroxylase Deficiency
2. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
3. Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
4. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.
5. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.
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1. Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency;Frontiers in Endocrinology;2022-01-24
2. Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population;Journal of Endocrinological Investigation;2021-08-02
3. Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Endocrine;2020-05-05
4. Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients;Endocrine Connections;2019-02
5. CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype–Phenotype Correlation from a Portuguese Pediatric Cohort;Hormone Research in Paediatrics;2019
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