Fig. 1From: Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysisFamily 1 and verification of a de novo nonsense mutation c.502C > T, p.(Arg168*) of MECP2. a The mutation is detected 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 3 years oldBack to article page