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A novel COLEC10 mutation in a child with 3MC syndrome
Affiliation:1. Department of Medical Sciences, University of Turin, Turin, Italy;2. Immunogenetics and Transplant Biology Service, Città della Salute e della Scienza University Hospital, Turin, Italy;3. Pediatric Nephrology Dialysis and Transplantation Unit, Città della Salute e della Scienza University Hospital, Turin, Italy;4. Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, University of Turin, Turin, Italy;1. Centre for Human Genetics, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium;2. Laboratory of Microbiology, Bioorganic and Macromolecular Chemistry, Université Libre de Bruxelles, Brussels, Belgium;3. Telomeres Research Group, Genetic & Epigenetic Alterations of Genomes, de Duve Institute, Université catholique de Louvain, Brussels, Belgium;4. IPG BioBank and Laboratory of Translational Oncology, Institut de Pathologie et de Génétique/Grand Hôpital de Charleroi, Gosselies, Belgium;5. Department of Anatomopathology, Cliniques de Mont-Godinne, CHU-UCL-Namur, Godinne, Belgium;6. UCLouvain, Cliniques Universitaires St Luc, Service de Gastroentérologie et Hépatologie Pédiatrique, 10 Av Hippocrate, Bruxelles, Belgium;7. Department of Endocrinology, Vivalia, Cliniques Sud Luxembourg, Arlon, Belgium;8. Department of Oto-Rhino-Laryngology, Vivalia, Cliniques Sud Luxembourg, Arlon, Belgium;9. Department of Orthopedic Surgery, Vivalia, Cliniques Sud Luxembourg, Arlon, Belgium;10. Department of Hepato-Gastro-Enterology, Cliniques de Mont-Godinne, CHU-UCL-Namur, Godinne, Belgium;11. Faculty of Medicine, Unamur, Namur, Belgium;1. i3S – Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal;2. IBMC – Institute for Molecular and Cell Biology, Universidade do Porto, Portugal;3. Centre for Predictive and Preventive Genetics (CGPP), Universidade do Porto, Portugal;4. Faculty of Psychology and Education Sciences, University of Porto, Porto, Portugal;5. CHUC - Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Portugal;6. CHULN-HSM – Serviço de Genética Médica, Centro Hospitalar Universitário de Lisboa Norte – Hospital de Santa Maria, Portugal;7. EPER – Hospital de Santo Espírito da Ilha Terceira, Portugal;8. HB - Unidade de Genética Médica, Hospital de Braga, Portugal;9. ICBAS – Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Portugal;10. ICVS/3B''s, PT Government Associate Laboratory, Braga/Guimarães, Portugal;11. Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal;12. Centro de Psicologia, Universidade do Porto, Porto, Portugal;1. Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran;2. Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran;3. Medical Imaging Research Center, Department of Radiology, Shiraz University of Medical Sciences, Shiraz, Iran;1. Department of Endocrinology, Diabetes and Metabolism, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, India;2. Department of Paediatric Endocrinology, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, India;3. Department of Biochemistry, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, India;4. Department of Clinical Genetics, Aster MIMS, Calicut, Kerala, India;1. Greenwood Genetic Center, Greenwood, SC, USA;2. Department of Pediatrics, Section of Genetics and Metabolism, Children''s Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO, USA;3. Divsion of Genetics, Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA;4. Dell Children''s Medical Group, Austin, TX, USA;1. Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey;2. Department of Neonatology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey;3. Department of Pediatric Endocrinology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey;4. Department of Medical Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey;5. Department of Medical Genetics, Bezmialem University, Istanbul, Turkey
Abstract:
Keywords:3MC syndrome  CL-L1  Rare disease  Cell migration
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