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Identification of a growth hormone mutation responsible for short stature

✍ Scribed by K Chihara

Book ID: 114811039
Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 117 KB
Volume: 85
Category: Article
ISSN: 0803-5253
DOI: 10.1111/j.1651-2227.1996.tb14295.x

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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