The molecular genetics of growth hormone deficiency
作者： A. M. Procter , John A. Phillips III. , David N. Cooper
关键词:
摘要: Although most cases of short stature associated with growth hormone (GH) deficiency are sporadic and idiopathic, some 5-30% have an affected first degree relative consistent a genetic aetiology for the condition. Several different types mutational lesion in pituitary-expressed (GH1) gene been described individuals. This review focuses primarily on GH1 spectrum its unusual features, discusses potential mechanisms mutagenesis pathogenesis, examines correlation between mutant genotype clinical phenotype. The characterization pathological lesions several other genes that epistatic to (POU1F1, PROP1 GHRHR) has identified additional causes GH deficiency, molecular genetics which also explored.
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