## Isolated growth hormone deficiency (IGHD) IB is an autosomal recessive disorder characterized by a good response to exogenous growth hormone (GH) treatment without development of anti-GH antibodies. Patients with IGHD IB were found to be compound heterozygotes for deletion and frameshift mutatio
✦ LIBER ✦
A dominant-negative mutation of the growth hormone receptor causes familial short stature
✍ Scribed by Ayling, Ruth M.; Ross, Richard; Towner, Paul; Laue, Sigward Von; Finidori, Joëlle; Moutoussamy, Soraya; Buchanan, Charles R.; Clayton, Peter E.; Norman, Michael R.
- Book ID
- 109916034
- Publisher
- Nature Publishing Group
- Year
- 1997
- Tongue
- English
- Weight
- 292 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1061-4036
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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 idiop