Fig. 4: Genotype–phenotype correlation for angiographic and MRI findings. | European Journal of Human Genetics

Fig. 4: Genotype–phenotype correlation for angiographic and MRI findings.

From: The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort

Fig. 4

Schematic representation of the Circle of Willis and the respective brain territories supplied by the anterior, middle and posterior cerebral artery (ACA, MCA and PCA). Arteries involved and their respective territories are colored based on percentage of patients affected, as reported in the legend at the bottom. The involvement of each artery and territory was compared between RNF213 patients (A), RNF213 patients below the age of 5 (B), NF1 patients (C) and the respective rest of the cohort by Fischer’s Exact Test (FET) irrespective of laterality. Significant differences (FET p value <0.05 after Bonferroni correction) are shown in bold. Patients aged below 5 years (C) were separately analyzed in order to exclude the possible confounding effect of age, as RNF213 patients are younger than non-RNF213 ones (Fig. 3A). Two NF1 patients (68632 and 82059) were excluded from this analysis as they carried an additional (possibly) deleterious RNF213 variant as well.

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