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Journal Abstract Search

117 related items for PubMed ID: 32065455

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  • 5. Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.
    Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A, Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, Smithson S.
    Am J Med Genet A; 2011 Mar; 155A(3):508-18. PubMed ID: 21344641
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  • 7. Cantú syndrome with coexisting familial pituitary adenoma.
    Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M.
    Endocrine; 2018 Mar; 59(3):677-684. PubMed ID: 29327300
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  • 8. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
    Kortüm F, Niceta M, Magliozzi M, Dumic Kubat K, Robertson SP, Moresco A, Dentici ML, Baban A, Leoni C, Onesimo R, Obregon MG, Digilio MC, Zampino G, Novelli A, Tartaglia M, Kutsche K.
    Eur J Med Genet; 2020 Sep; 63(9):103996. PubMed ID: 32622958
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  • 9. Cantú syndrome resulting from activating mutation in the KCNJ8 gene.
    Cooper PE, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG.
    Hum Mutat; 2014 Jul; 35(7):809-13. PubMed ID: 24700710
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  • 11. Cantú syndrome is caused by mutations in ABCC9.
    van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A.
    Am J Hum Genet; 2012 Jun 08; 90(6):1094-101. PubMed ID: 22608503
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  • 14. Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
    Apuril Velgara ES, Mariani M, Torella A, Musacchia F, Telethon Undiagnosed Diseases Program (TUDP) consortium, Nigro V, Selicorni A.
    Am J Med Genet A; 2022 Jun 08; 188(6):1661-1666. PubMed ID: 35243770
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  • 17. Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.
    Grange DK, Lorch SM, Cole PL, Singh GK.
    Am J Med Genet A; 2006 Aug 01; 140(15):1673-80. PubMed ID: 16835932
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  • 20. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.
    Ohko K, Nakajima K, Nakajima H, Hiraki Y, Kubota K, Fukao T, Miyatake S, Matsumoto N, Sano S.
    J Dermatol; 2020 Mar 01; 47(3):306-310. PubMed ID: 31907964
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