ESPE Abstracts

ESPE Abstracts

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hrp0084p1-97 | Growth | ESPE2015

High Frequency of Hypomorphic Allelic Haplotypes of the gh1 Proximal Promoter in Patients with Proportional Undergrowth and Isolated GH Deficiency

Campos-Barros Angel , Gomez-Nunez Ana , Zurita-Munoz Olga , Gallego-Gomez Elena , Cruz-Rojo Jaime , Garzon Lucia , Luzuriaga-Tomas Cristina , Riano-Galan Isolina , Bezanilla-Lopez Carolina , Donate-Legaz Jose Maria , Marban-Calzon Mercedes , Ruperez Sara , Hermoso Florinda , Lara-Orejas Emma , Borras-Perez Ma Victoria , Rius-Peris Jose Manuel , Garcia-Cuartero Beatriz , Gonzalez-Casado Isabel

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...
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ESPE Abstracts

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