Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
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| Title: | Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects. |
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| Authors: | Nosrati MSS; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Doustmohammadi A; Department of Bioinformatics and Computational Biophysics, Faculty of Biology, University of Duisburg-Essen, Essen, Germany., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Romano F; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Zafari M; Department of Bioengineering, Northeastern University, Boston, Massachusetts, USA., Nemati AH; Department of Epidemiology and Biostatistics, Pasteur Institute of Iran, Tehran, Iran., Velmans C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Netzer C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Breuer J; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Broekaert IJ; Department of Paediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Joachim A; Department of Pediatrics, Faculty of Health, Helios University Medical Center Wuppertal, Witten/Herdecke University, Witten, Germany., Almasri N; Department of Rehabilitation Sciences College of Health Sciences, Qatar University, Doha, Qatar.; Department of Physiotherapy School of Rehabilitation Sciences, University of Jordan, Amman, Jordan., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.; College of Health Solutions, Arizona State University, Tempe, Arizona, USA., Bisarad P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Hoque J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Buffelli F; Fetal-Perinatal Pathology Unit, IRCCS-Istituto Giannina Gaslini, Genoa, Italy., Fulcheri E; Fetal-Perinatal Pathology Unit, IRCCS-Istituto Giannina Gaslini, Genoa, Italy., Müller A; Pediatric Pathology, University Clinic of Cologne, Cologne, Germany., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy. |
| Source: | Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 83-90. Date of Electronic Publication: 2024 Sep 21. |
| Publication Type: | Journal Article; Case Reports; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14621 |
