Article
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Proceedings of the National Academy of Sciences of the United States of America - 12 Feb 2013
New Maria I, Abraham Moolamannil, Gonzalez Brian, Dumic Miroslav, Razzaghy-Azar Maryam, Chitayat David, Sun Li, Zaidi Mone, Wilson Robert C, Yuen Tony
Abstract excerpt
Over the last two decades, we have extensively studied the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA analyses of the CYP21A2 gene on members of 4,857 families at risk for CAH--the largest cohort of CAH patients reported to da...
Topics
- Adrenal Hyperplasia, Congenital
- Cohort Studies
- Ethnicity
- Gene Deletion
- Gene Frequency
- Genotype
- Humans
- Models, Genetic
- Mutation
- New York
- Phenotype
- Steroid 21-Hydroxylase