Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.

Abstract excerpt

Human GH is encoded by the GH-1 gene which belongs to the GH gene cluster encompassing a distance of about 65 kb on the long arm of chromosome 17. Familial isolated growth hormone deficiency (IGHD) is associated with at least four Mendelian disorders. These include two forms that have autosomal recessive inheritance (IGHD types IA and IB) as well as autosomal dominant (IGHD type II) and X-linked (IGHD III) forms....

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