Article
Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: relationship between defects and ethnic groups.
The Israel Medical Association journal : IMAJ - 1 Oct 2004
Shevah Orit, Rubinstein Menachem, Laron Zvi
Abstract excerpt
BACKGROUND: Laron Syndrome, first described in Israel, is a form of dwarfism similar to isolated growth hormone deficiency caused by molecular defects in the GH receptor gene. OBJECTIVE: To characterize the molecular defects of the GH-R in Laron syndrome patients followed in our clinic. METHODS: Of the 63 patients in the cohort, we investigated 31 patients and 32 relatives belonging to several ethnic origins....
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