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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia

Fig. 2

Pedigree of our proband with the variants in SLC6A1, NOTCH1 and PRIMPOL. The two variants in SLC6A1 and NOTCH1 were de novo events, and the PRIMPOL variant was inherited from the affected father, which was also a de novo change since the variant was absent from the paternal grandparents. Proband is marked with an arrow. dn: de novo

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BMC Medical Genetics

ISSN: 1471-2350

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