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Pedigrees of the Four Families with Infantile Myofibromatosis
Black filled symbols represent affected family members carrying the PDGFRB c.1681C>T (p.Arg561Cys) mutation. The c.1681C>T variant in individuals II-1 and II-2 in family 1 was identified by WES, and the same mutation in individual III-1 in family 2 was discovered by RNA-seq.
