Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
- 30 April 2007
- journal article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 90 (4), 414-421
- https://doi.org/10.1016/j.ymgme.2006.12.005
Abstract
No abstract availableKeywords
This publication has 62 references indexed in Scilit:
- Nonclassic 21-Hydroxylase Deficiency in CroatiaJournal of Pediatric Endocrinology and Metabolism, 2004
- Human Gene Mutation Database (HGMD®): 2003 updateHuman Mutation, 2003
- Congenital Adrenal Hyperplasia due to 21-Hydroxylase DeficiencyEndocrine Reviews, 2000
- Newborn screening for congenital adrenal hyperplasia in New ZealandThe Journal of Pediatrics, 1995
- Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.JCI Insight, 1992
- Benign testicular tumors in children with congenital adrenal hyperplasiaJournal of Pediatric Surgery, 1992
- Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyTrends in Endocrinology & Metabolism, 1990
- Molecular Genetic Analysis of Nonclassic Steroid 21-Hydroxylase Deficiency Associated with HLA-B14,DR1The New England Journal of Medicine, 1988
- Molecular Cloning of Steroid 21‐HydroxylaseaAnnals of the New York Academy of Sciences, 1985
- Adult Height and Fertility in Men with Congenital Virilizing Adrenal HyperplasiaThe New England Journal of Medicine, 1978