Fig. 1: Pedigree structures of families with identified NOTCH1 variants, ascertained through a proband with congenital heart disease. | European Journal of Human Genetics

Fig. 1: Pedigree structures of families with identified NOTCH1 variants, ascertained through a proband with congenital heart disease.

From: Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

Fig. 1

A–K are labeled for the family name referenced in the text (e.g., Family A is depicted in (A)). Probands are marked by a black arrow. The genetic status of all 47 individuals who had genetic testing is included, with “+” denoting the NOTCH1 wildtype allele and “−” denoting the NOTCH1 variant allele. Individuals shaded in solid black had clinically known, structural cardiac disease (confirmed by review of echocardiogram where possible). Individuals shaded in hatched grey had extracardiac vascular features.

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