Article
Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
Arquivos brasileiros de endocrinologia e metabologia - 1 Jan 2010
Cruz Juliana B, Nunes Vania S, Clara Sueli A, Perone Denise, Kopp Peter, Nogueira Célia R
Abstract excerpt
OBJECTIVE: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. SUBJECTS AND METHODS: In all patients, the HESX1 gene was analyzed by direct sequence...
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