Article
Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
Hormone research in paediatrics - 1 Jan 2013
Domené Horacio M, Scaglia Paula A, Martínez Alicia S, Keselman Ana C, Karabatas Liliana M, Pipman Viviana R, Bengolea Sonia V, Guida María C, Ropelato María G, Ballerini María G, Lescano Eva M, Blanco Miguel A, Heinrich Juan J, Rey Rodolfo A, Jasper Héctor G
Abstract excerpt
BACKGROUND: In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mutations are frequently shorter than their wild-type relatives, suggesting that IGFALS haploinsufficiency could result in short stature. We have characterized IGFALS gene variants in idiopathic short stature (ISS) and in normal children, determining their impact on height and the IGF system. PATIENTS AND METHODS: In...
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