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Volumn 136, Issue 1, 2015, Pages e262-e266

Progressive aortic dilation associated with ACTA2 mutations presenting in infancy

Author keywords

[No Author keywords available]

Indexed keywords

ATENOLOL; BOSENTAN; ENALAPRIL; ILOPROST; INOTROPIC AGENT; NITRIC OXIDE; SILDENAFIL; ACTA2 PROTEIN, HUMAN; ACTIN; DNA;

EID: 84934286615     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2014-3032     Document Type: Article
Times cited : (18)

References (12)
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  • 2
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    • De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
    • Milewicz DM, Østergaard JR, Ala-Kokko LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010;152A(10):2437-2443
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  • 3
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    • ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome
    • Meuwissen MEC, Lequin MH, Bindels-de Heus K, et al. ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. Am J Med Genet A. 2013; 161A(6):1376-1380
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  • 4
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    • Munot P, Saunders DE, Milewicz DM, et al. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain. 2012;135(pt 8):2506-2514
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  • 5
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    • R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations
    • Richer J, Milewicz DM, Gow R, et al. R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. Am J Med Genet A. 2012;158A(3):664-668
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  • 6
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.