Article
Short stature caused by a natural growth hormone antagonist.
Hormone research - 1 Jan 1998
Chihara K, Takahashi Y, Kaji H, Goji K, Okimura Y, Abe H
Abstract excerpt
Severe short stature in a male child due to a single mutation in the GH-1 gene was first reported in 1996 by Takahashi et al. [N Engl J Med 1996;334:432-436]. This missense mutation was predicted to convert codon 77 from arginine (R) to cysteine (C). The child's chronological age was 4 years and 11 months, and his bone age 2 years and 6 months, i.e., equal to only 51% of his chronological age. Body proportions...
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