Phenotypic and genotypic analysis of pediatric patients with congenital isolated growth hormone deficiency resulting from biallelic variants in the GHRHR gene: a Belgian registry study.

Abstract excerpt

Pathogenic variants in the growth hormone releasing hormone receptor (GHRHR) gene cause severe isolated growth hormone deficiency (IGHD). Over 82 distinct variants have been described, mostly in South and East Asia and Northern Brazil. This study characterizes the phenotypic and genotypic variability of children harboring (likely) pathogenic GHRHR variants, included in the Belgian and Luxembourg Registry for...

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