Below are the most recent publications written about "Syndactyly" by people in Profiles.
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Mubungu G, Lukute G, Makay P, Songo C, Lukusa P, Devriendt K, Lumaka A. Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). Am J Med Genet A. 2020 07; 182(7):1572-1575.
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Dufendach KA, Timothy K, Ackerman MJ, Blevins B, Pflaumer A, Etheridge S, Perry J, Blom NA, Temple J, Chowdhury D, Skinner JR, Johnsrude C, Bratincsak A, Bos JM, Shah M. Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder. JACC Clin Electrophysiol. 2018 04; 4(4):459-466.
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Betzenhauser MJ, Pitt GS, Antzelevitch C. Calcium Channel Mutations in Cardiac Arrhythmia Syndromes. Curr Mol Pharmacol. 2015; 8(2):133-42.
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Sulkowski JP, Cooper JN, Duggan EM, Balci O, Anandalwar S, Blakely ML, Heiss K, Rangel SJ, Minneci PC, Deans KJ. Early versus delayed surgical correction of malrotation in children with critical congenital heart disease. J Pediatr Surg. 2015 Jan; 50(1):86-91.
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Boczek NJ, Miller EM, Ye D, Nesterenko VV, Tester DJ, Antzelevitch C, Czosek RJ, Ackerman MJ, Ware SM. Novel Timothy syndrome mutation leading to increase in CACNA1C window current. Heart Rhythm. 2015 Jan; 12(1):211-9.
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Hennessey JA, Boczek NJ, Jiang YH, Miller JD, Patrick W, Pfeiffer R, Sutphin BS, Tester DJ, Barajas-Martinez H, Ackerman MJ, Antzelevitch C, Kanter R, Pitt GS. A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis. PLoS One. 2014; 9(9):e106982.
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Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Am J Hum Genet. 2014 Sep 04; 95(3):308-14.
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Gripp KW, Ennis S, Napoli J. Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. Am J Med Genet A. 2013 May; 161A(5):1058-63.
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Nathan AT, Antzelevitch C, Montenegro LM, Vetter VL. Case scenario: anesthesia-related cardiac arrest in a child with Timothy syndrome. Anesthesiology. 2012 Nov; 117(5):1117-26.
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Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D. Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome. Am J Med Genet A. 2012 Jan; 158A(1):182-7.