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De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency?

✍ Scribed by Massa, G. G.; Binder, G.; Oostdijk, W.; Ranke, M. B.; Wit, J. M.


Book ID
113042852
Publisher
Springer
Year
1998
Tongue
English
Weight
471 KB
Volume
157
Category
Article
ISSN
0340-6997

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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