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New growth hormone receptor exon 9 mutation causes genetic short stature

✍ Scribed by RM Ayling; RJM Ross; P Towner; S Von Laue; J Finidori; S Moutoussamy; CR Buchanan; PE Clayton; MR Norman

Book ID
114812323
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
505 KB
Volume
88
Category
Article
ISSN
0803-5253

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## 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