Article
The molecular genetics of growth hormone deficiency.
Human genetics - 1 Sept 1998
Procter A M, Phillips J A, Cooper D N
Abstract excerpt
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 with a genetic aetiology for the condition. Several different types of mutational lesion in the pituitary-expressed growth hormone (GH1) gene have been described in affected individuals. This review focuses primarily on the GH1 mutational...
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