Article
A novel growth hormone receptor gene deletion mutation in a patient with primary growth hormone insensitivity syndrome (Laron syndrome).
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Apr 2008
Yamamoto Hiroyasu, Kouhara Haruhiko, Iida Keiji, Chihara Kazuo, Kasayama Soji
Abstract excerpt
OBJECTIVE: Growth hormone (GH) insensitivity syndrome (Laron syndrome) is known to be caused by genetic disorders of the GH-IGF-1 axis. Although many mutations in the GH receptor have been identified, there have been only a few reports of deletions of the GH receptor gene. DESIGN: A Japanese adult female patient with Laron syndrome was subjected to chromosome analysis with basic G-banding and also with a high...
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