Article
In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype.
Journal of endocrinological investigation - 1 Mar 2007
Wasniewska M, Di Pasquale G, Rulli I, Salzano G, Caruso M, Indovina S, Di Pasquale L, Zirilli G, De Luca F
Abstract excerpt
The spectrum of mutated alleles in non-classical congenital adrenal hyperplasia (NC-CAH) has been recently reported to be very large and haplotypes may significantly differ in the different ethnic groups. In order to confirm that population differences may exist in the genetic basis of this disease, we have analyzed the genetic presentation of NC-CAH in a Sicilian cohort of symptomatic patients and compared our...
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