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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing

Fig. 1

Clinical and genetic features. A The distribution of all variants detected so far in fourteen patients with SMG9 variants. B Pedigree chart of the family of the patients with SMG9-deficiency syndrome. The proband is indicated by a black arrow. C Sanger sequencing DNA chromatograms of SMG9 indicating the frameshift c.1318_1319delAG(p.Ser440*) variant inherited from the mother and the missense variant c.947A>G (p.His316Arg) was transmitted by the father. D Facial clinical features at the age of 4 months. Note the presence of prominent metopic suture with broad nasal bridge, low set malformed ears and left-sided ptosis

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