Fig. 2From: A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopeniaFamily pedigree (the proband is marked with big red arrow) and Sanger sequencing diagram of the MECOM variant (c.2285G > A, p.Arg762Lys). The red arrows indicate the substitution present in the patient, but absent from his parents. WT, wild-typeBack to article page