Fig. 2From: Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysisSanger sequencing of the mutation c.916C > T, p.(Arg360Cys) of MECP2 in case 2. a The mutation is present in the proband, but not in the parents, is confirmed by Sanger sequencing. b Pedigree of the family and facial photograph of the proband at 8 years oldBack to article page