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Short stature in a patient with Klinefelter syndrome and growth hormone deficiency

✍ Scribed by Rossodivita, A. ;Colabucci, F.


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
319 KB
Volume
49
Category
Article
ISSN
0148-7299

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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