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Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

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第一作者： Hieu D,Hoang

第一单位： Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.

作者： Hieu D,Hoang ^[1] ; Rebecca C,Spillmann ^[2] ; Daniel J,Wegner ^[1] ; Maria G,Tedesco ^[3] ; Malene,Brohus ^[4] ; Antonio,Novelli ^[5] ; Fabrizia,Stregapede ^[5] ; Daniela,Rogaia ^[3] ; Stefania,Troiani ^[6] ; Jacob,Lesinski ^[1] ; Weimin,Yuan ^[1] ; Sara M,Fielder ^[1] ; Bo,Zhang ^[1] ; Stephanie,Morrison ^[1] ; Suk,Regmi ^[1] ; Miryam R S,Foti ^[7] ; Dustin,Baldridge ^[1] ; Gary A,Silverman ^[1] ; Undiagnosed Diseases Network ^[8] ; Patrick,Shea ^[1] ; Patricia,Dickson ^[1] ; Jennifer A,Wambach ^[4] ; Michael T,Overgaard ^[4] ; Helene H,Jensen ^[4] ; Anders,Olsen ^[3] ; Paolo,Prontera ^[2] ; Vandana,Shashi ^[1] ; Stephen C,Pak ^[9] ; Tim,Schedl

作者单位： Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States. ^[1] Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, 905 Lasalle Street, Durham, NC 27710, United States. ^[2] Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy. ^[3] Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark. ^[4] Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146 Rome, Italy. ^[5] Neonatal Intensive Care Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 1, 06129 Perugia, Italy. ^[6] Genetics Unit, Medical Science and Maternal-Infantile Department, Hospital Sant'Anna of Ferrara, Via Fossato di Mortara, 74, 44121 Ferrara, Italy. ^[7] Institute for Genome Medicine, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, United States. ^[8] Department of Genetics, Washington University in St. Louis School of Medicine, 4523 Clayton Ave St. Louis, MO 63110, United States. ^[9]

关键词 C. elegans calmodulin missense variant phenotypic expansion splicing