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- Title
Novel Growth Hormone Receptor Mutation in a Chinese Patient with Laron Syndrome.
- Authors
Hui, Hamilton N. T.; Metherell, Louise A.; Ng, K. L.; Savage, Martin O.; Camacho-Hübner, Cecilia; Clark, Adrian J. L.
- Abstract
Laron syndrome, growth hormone (GH) insensitivity syndrome, caused by a mutation of the GH receptor (GHR) gene, is extremely rare in the Chinese population. We report a Chinese girl diagnosed with Laron syndrome at age 1.9 years with height -4.9 SDS, basal GH 344 mIU/ml, IGF-I <12 ng/ml, IGFBP-3 <0.2 mg/ml, and undetectable GHBP. A novel mutation of the GHR, not previously described, was identified at the donor splice site of intron 6.
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2005, Vol 18, Issue 2, p209
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/jpem.2005.18.2.209