Article
Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families.
European journal of endocrinology - 1 Jun 2011
Nandagopal Radha, Sinaii Ninet, Avila Nilo A, Van Ryzin Carol, Chen Wuyan, Finkielstain Gabriela P, Mehta Sneha P, McDonnell Nazli B, Merke Deborah P
Abstract excerpt
OBJECTIVE: To comprehensively phenotype parents identified with nonclassic congenital adrenal hyperplasia (NCCAH) by family genetic studies, termed here as cryptic NCCAH and to define the incidence of cryptic NCCAH in the parents of a large cohort of patients with 21-hydroxylase deficiency. DESIGN: Genotyping was performed on 249 parents of 145 unrelated congenital adrenal hyperplasia (CAH) patients. Parents with...
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