Article
[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation].
Arquivos brasileiros de endocrinologia e metabologia - 1 Oct 2004
Bachega Tânia A S S, Billerbeck Ana Elisa C, Parente Erica B, Lemos-Marini Sofia H V, Baptista Maria Tereza M, Mello Maricilda P, Guerra Gil, Kuperman Hilton, Setian Nuvarte, Damiani Durval, Torres Natália, Castro Margaret de, Mendonça Berenice B de
Abstract excerpt
We analyzed the clinical and molecular data of 205 patients with the three different clinical forms of 21-hydroxylase deficiency, in whom the clinical and molecular diagnosis were already defined. The most frequent mutations were I2 splice in the salt wasting form, I172N in the simple virilizing and V281L in the nonclassical form, presenting similar frequencies as those observed in other populations. We found a...
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