Article
The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
American journal of medical genetics. Part A - 1 May 2014
Gonçalves Fernanda T, Fridman Cintia, Pinto Emília M, Guevara-Aguirre Jaime, Shevah Orit, Rosembloom Arlan L, Hwa Vivian, Cassorla Fernando, Rosenfeld Ron G, Lins Theresa S S, Damiani Durval, Arnhold Ivo J P, Laron Zvi, Jorge Alexander A L
Abstract excerpt
Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gene. The most frequent GHR mutation is E180splice (rs121909360), which was initially found in an inbred population of Spanish descent in Ecuador and subsequently in Israel, Brazil, Chile, and the United States. The aim of the present study is to determine if the E180splice mutation arose from a common origin. We...
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