Fig. 3: The extracardiac phenotype of individuals with a clinically relevant NOTCH1 variant, based on results from the cohort studied. | European Journal of Human Genetics

Fig. 3: The extracardiac phenotype of individuals with a clinically relevant NOTCH1 variant, based on results from the cohort studied.

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

Fig. 3

Features include cutis aplasia involving the scalp, structural brain anomalies, intracranial/posterior circulation vascular anomalies, portal vein hypoplasia, cutaneous vascular malformations (including cutis marmorata), and limb anomalies.

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