984 resultados para Inscriptions, Turkish


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par J. G. H. Greppo

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rec., trad., comm. et accomp. de notices biogr. par Isaac Bloch

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A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension.