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
Description
ISSN:1460-2083
DOI:10.1093/hmg/ddaf195