Maimoun, Laurent

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