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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

Fig. 1

Pedigree of the family with c.3234C > G, p.Ile1078Met variant in MYH11 gene and c.363_367del GAGTC, p.Met121Ilefs*5 variant in ACTA2 gene. The individual II:2 on initial screening had normal aortic measurements and after genetic screening was re-evaluated and found to have a mild dilation. Proband is indicated with an arrow; Black-filled symbols represent affected individuals with TAA; Age of the family members and their genotypes are listed below the symbols; Dotted lines indicate the absence of the mutation

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BMC Medical Genetics

ISSN: 1471-2350

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