Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. [electronic resource]
- The Journal of clinical endocrinology and metabolism Feb 2011
- 296-307 p. digital
Publication Type: Journal Article
1945-7197
10.1210/jc.2010-1024 doi
3-Oxo-5-alpha-Steroid 4-Dehydrogenase--deficiency Adolescent Alleles Amino Acid Substitution--genetics Androgen-Insensitivity Syndrome--diagnosis Child Child, Preschool Cohort Studies DNA--genetics Dihydrotestosterone--blood Disorders of Sex Development--genetics Exons--genetics Female Genitalia, Female--abnormalities Genitalia, Male--abnormalities Genotype Heterozygote Humans Infant Male Membrane Proteins--genetics Mutation Phenotype Polymorphism, Genetic--genetics Testosterone--blood Young Adult