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A Pedigree of the family. B Facial features of patient II-3 at 2 days (B1) and 57 days (B2) old. C Clinical features of patient II-5 at 2 days (C3-C5) showing camptodactyly of the third and fourth fingers and polydactyly. D Heterozygous MAGEL2 mutations: Sanger sequencing of patients II-3 and II-5 and her parents, NM_019066.4 c.1996dupC (p.Gln666Profs*47).
