Browsing by Subject "growth hormone receptor deficiency"

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    • The E180splice Mutation in the GHR Gene Causing Laron Syndrome: Witness of a Sephardic Jewish Exodus from ... 
      Goncalves, Fernanda T.; Fridman, Cintia; Pinto, Emília M.; Guevara Aguirre, Jaime; Shevah, Orit; Rosembloom, Arlan L.; Hwa, Vivian; Cassorla Goluboff, Fernando; Rosenfeld, Ron G.; Lins, Theresa; Damiani, Durval; Arnhold, Ivo; Laron, Zvi; Jorge, Alexander (Wiley, 2014)
      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 ...