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Early-Life Presentation and Phenotypic Variability of the IGF1R c.3595G>A (p.Gly1199Arg) Variant: A Case Report

Most infants born small for gestational age (SGA) achieve spontaneous catch-up growth within the first two years of life; however, a subset remains growth-restricted and warrants further evaluation. Persistent short stature accompanied by microcephaly should prompt consideration...