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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients

Fig. 2

The mutant p.Y145C was detected in a family with diagnosed ATS. a Pedigree of the family. Filled symbols indicate clinically affected individuals. +/− represents heterozygous carriers of mutation Y145C in KCNJ2 and −/− indicates exclusion of Y145C. Crossed symbols represent deceased family members. b ATS index patient (arrow in a) exhibiting typical clinical symptoms such as small chin, low-set ears and hypertelorism (not shown) c Prominent U-waves in resting ECG (scale 50 mm/s) of the ATS patient. Reprinted with permission from Beckmann and Kääb as well as the Hans Marseille Verlag [21]

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