Browsing by Author "b3cfbde7-13e9-45c5-955f-eb9d53717b0a"

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    • Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies 
      Ocaranza Osses, Paula; Golekoh, Marjorie C.; Andrew, Shayne F.; Guo, Michael H.; Kaplowitz, Paul; Saal, Howard; Rosenfeld, Ron G.; Dauber, Andrew; Cassorla Goluboff, Fernando; Backeljauw, Philippe F.; Hwa, Vivian (Karger, 2017)
      Background: The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal ...