Article
A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Gene - 10 Sept 2013
Coeli-Lacchini Fernanda Borchers, Turatti Wendy, Elias Paula Conde Lamparelli, Elias Lucila Leico Kagohara, Martinelli Carlos Eduardo, Moreira Ayrton Custodio, Antonini Sonir Roberto, de Castro Margaret
Abstract excerpt
CONTEXT: Molecular diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) has not been straightforward. OBJECTIVE: To conduct a comprehensive genetic analysis by Multiplex Ligation dependent Probe Amplification (MLPA) and evaluate its reliability for the molecular CAH-21OHD diagnosis. PATIENTS AND METHODS: We studied 99 patients from 90 families with salt-wasting (SW; n=32),...
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