Article
Mutations in CYP11B1 gene: phenotype-genotype correlations.
American journal of medical genetics. Part A - 15 Oct 2003
Zhu Yuan-Shan, Cordero Juan J, Can Selcuk, Cai Li-Qun, You Xueke, Herrera Cecilia, DeFillo-Ricart Mariano, Shackleton Cedric, Imperato-McGinley Julianne
Abstract excerpt
11beta-hydroxylase deficiency, an autosomal recessive disorder, is the second most common cause of congenital adrenal hyperplasia. We studied four subjects with classic 11beta-hydroxylase deficiency and severe hypertension: a 46,XX affected subject from a Turkish family with severe ambiguity of the external genitalia and hypertension, and three affected 46,XY subjects from a Dominican kindred with isosexual...
Topics
- Adrenal Hyperplasia, Congenital
- Child, Preschool
- Codon, Nonsense
- DNA
- DNA Mutational Analysis
- Family Health
- Female
- Genotype
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Polymorphism, Single-Stranded Conformational