Two novel heterozygous missense variations within the GLI2 gene in two unrelated argentine patients
Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients
Medicina (B.Aires); 76 (4), 2016
Several heterozygous GLI2 gene mutations have been reported in patients with isolated GH deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD) with or without other malformations. The primary aim of this study was to analyze the presence of GLI2 gene alterations in a cohort of patients with I...
Argentina, Heterocigoto, Hormona de Crecimiento Humana/deficiencia, Intrones, Factores de Transcripción de Tipo Kruppel/genética, Microcefalia/diagnóstico, Mutación Missense, Fenotipo, Adenohipófisis/anomalías, Neurohipófisis/anomalías, Hormonas Hipofisarias/deficiencia, Proteína Gli2 con Dedos de Zinc