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A heterozygous mutation in the cleavage site of the proreceptor of IGF1R was reported in a 6-year-old Japanese girl and her mother (Kawashima et al., 2005) and the group of Wit in Leiden described a mother and daughter with a heterozygous missense mutation in the intracellular part of the IGF1R (Walenkamp et al., 2006)