Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population
Abstract
5-α reductase deficiency is a rare 46,XY disorder of sex development. We present detailed phenotypic and genotypic features of a cohort of 24 subjects from a highly consanguineous population of Saudi Arabia We studied the clinical presentation and hormonal profiles of 24 subjects diagnosed with 5-α reductase deficiency and performed genetic testing on DNA isolated from their peripheral blood using polymerase chain reaction and direct sequencing...
Paper Details
Title
Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population
Published Date
Sep 29, 2018
Journal
Volume
63
Issue
2
Pages
361 - 368
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