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hrp0084p3-1117 | Pituitary | ESPE2015

Two Novel Mutations in GLI2 Gene in Two Unrelated Argentinean Prepuberal Patients, One with Isolated Growth Hormone Deficiency, and Another with Multiple Pituitary Hormone Deficiency, Both with Developmental Defects in Posterior Pituitary Gland

Marino Roxana , Juanes Matias , Ramirez Pablo , Garrido Natalia Perez , Ciaccio Marta , Palma Isabel Di , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco Aurelio , Belgorosky Alicia

Background: Congenital growth hormone deficiency may be isolated (IGHD) or multiple pituitary hormone deficiency (MPHD). The Sonic Hedgehog signalling (SHH) pathway has an important role in the pituitary development and growth, acting early in ventral forebrain. The SHH signalling mediates its effects through three zinc fingers proteins (Gli1, Gli2 and Gli3), which lead to activation or repression of target genes. Several heterozygous GLI2 mutations have been reported in patie...

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ESPE Abstracts

Two Novel Mutations in GLI2 Gene in Two Unrelated Argentinean Prepuberal Patients, One with Isolated Growth Hormone Deficiency, and Another with Multiple Pituitary Hormone Deficiency, Both with Developmental Defects in Posterior Pituitary Gland

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