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

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Title: Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.
Authors: Hoang HD; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, 905 Lasalle Street, Durham, NC 27710, United States., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Tedesco MG; Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy., Brohus M; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146 Rome, Italy., Stregapede F; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146 Rome, Italy., Rogaia D; Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy., Troiani S; Neonatal Intensive Care Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 1, 06129 Perugia, Italy., Lesinski J; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Yuan W; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Fielder SM; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Zhang B; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Morrison S; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Regmi S; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Foti MRS; Genetics Unit, Medical Science and Maternal-Infantile Department, Hospital Sant'Anna of Ferrara, Via Fossato di Mortara, 74, 44121 Ferrara, Italy., Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Silverman GA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Shea P; Institute for Genome Medicine, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, United States., Dickson P; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Overgaard MT; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark., Jensen HH; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark., Olsen A; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark., Prontera P; Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, 905 Lasalle Street, Durham, NC 27710, United States., Pak SC; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States., Schedl T; Department of Genetics, Washington University in St. Louis School of Medicine, 4523 Clayton Ave St. Louis, MO 63110, United States.
Corporate Authors: Undiagnosed Diseases Network
Source: Human molecular genetics [Hum Mol Genet] 2026 Feb 10; Vol. 35 (3).
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.
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  Data: <searchLink fieldCode="AU" term="%22Hoang+HD%22">Hoang HD</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Spillmann+RC%22">Spillmann RC</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, 905 Lasalle Street, Durham, NC 27710, United States.<br /><searchLink fieldCode="AU" term="%22Wegner+DJ%22">Wegner DJ</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Tedesco+MG%22">Tedesco MG</searchLink>; Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Brohus+M%22">Brohus M</searchLink>; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Stregapede+F%22">Stregapede F</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Rogaia+D%22">Rogaia D</searchLink>; Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Troiani+S%22">Troiani S</searchLink>; Neonatal Intensive Care Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 1, 06129 Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Lesinski+J%22">Lesinski J</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Yuan+W%22">Yuan W</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Fielder+SM%22">Fielder SM</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Zhang+B%22">Zhang B</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Morrison+S%22">Morrison S</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Regmi+S%22">Regmi S</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Foti+MRS%22">Foti MRS</searchLink>; Genetics Unit, Medical Science and Maternal-Infantile Department, Hospital Sant'Anna of Ferrara, Via Fossato di Mortara, 74, 44121 Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Baldridge+D%22">Baldridge D</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Silverman+GA%22">Silverman GA</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Shea+P%22">Shea P</searchLink>; Institute for Genome Medicine, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, United States.<br /><searchLink fieldCode="AU" term="%22Dickson+P%22">Dickson P</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Wambach+JA%22">Wambach JA</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Overgaard+MT%22">Overgaard MT</searchLink>; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Jensen+HH%22">Jensen HH</searchLink>; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Olsen+A%22">Olsen A</searchLink>; Department of Chemistry and Bioscience, Aalborg University, Fredrik Bajers Vej 7H, 9220 Aalborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Prontera+P%22">Prontera P</searchLink>; Medical Genetics and Rare Diseases Unit, Maternal-Infantile Department, Hospital of Perugia, Piazzale Menghini 8/9, 06129 Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Shashi+V%22">Shashi V</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, 905 Lasalle Street, Durham, NC 27710, United States.<br /><searchLink fieldCode="AU" term="%22Pak+SC%22">Pak SC</searchLink>; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, United States.<br /><searchLink fieldCode="AU" term="%22Schedl+T%22">Schedl T</searchLink>; Department of Genetics, Washington University in St. Louis School of Medicine, 4523 Clayton Ave St. Louis, MO 63110, United States.
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