Article
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
Human mutation - 1 Apr 2003
Millar David S, Lewis Mark D, Horan Martin, Newsway Vicky, Easter Tammy E, Gregory John W, Fryklund Linda, Norin Martin, Crowne Elizabeth C, Davies Sally J, Edwards Phillip, Kirk Jeremy, Waldron Kim, Smith Patricia J, Phillips John A, Scanlon Maurice F, Krawczak Michael, Cooper David N, Procter Annie M
Abstract excerpt
Subtle mutations in the growth hormone 1 (GH1) gene have been regarded as a comparatively rare cause of short stature. Such lesions were sought in a group of 41 individuals selected for short stature, reduced height velocity, and bone age delay; a group of 11 individuals with short stature and idiopathic growth hormone deficiency (IGHD); and a group of 154 controls. Heterozygous mutations were identified in all...
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