Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
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DOI: 10.1159/000464143
Abstract: 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 growth restriction or overgrowth. Methods:… read more here.
Keywords: live primary; igf1r; facs analysis; cell surface ... See more keywords