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This patient had a serum IGF-I level that was significantly increased (+7.3 SDS), explained by the fact that the patient’s homozygous missense mutation of IGF1 , a G → A nucleotide substitution at position 274, changing valine at position 44 in the A domain of the mature IGF-I protein to methionine (p.V44M), resulted in a recombinant protein (IGF1 V44M) which allowed normal binding to IGFBP-3 but decreased affinity (90-fold) for its receptor, IGF1R
