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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Palmer, Elizabeth E; Whitton, Chloe; Hashem, Mais O; Clark, Robin D; Ramanathan, Subhadra; Starr, Lois J; Velasco, Danita; De Dios, John Karl; Singh, Emily; Cormier-Daire, Valerie; Chopra, Maya; Rodan, Lance H; Nellaker, Christoffer; Lakhani, Shenela; Mallack, Eric J; Panzer, Karin; Sidhu, Alpa; Wentzensen, Ingrid M; Lacombe, Didier; Michaud, Vincent; Alkuraya, Fowzan S.
  • Palmer EE; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.
  • Whitton C; School of Women's and Children's Health, University of New South Wales, Randwick, New South Wales, Australia.
  • Hashem MO; Faculty of Medicine, University of New South Wales, Randwick, New South Wales, Australia.
  • Clark RD; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Ramanathan S; Division of Medical Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.
  • Starr LJ; Division of Medical Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.
  • Velasco D; Division of Medical Genetics, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA, Omaha, Nebraska, USA.
  • De Dios JK; Division of Medical Genetics, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA, Omaha, Nebraska, USA.
  • Singh E; Division of Medical Genetics, Department of Pediatrics, Dayton Children's Hospital, Dayton, Ohio, USA.
  • Cormier-Daire V; Division of Genetics, Medical College of Wisconsin with Children's Wisconsin, Milwaukee, Wisconsin, USA.
  • Chopra M; Service de Génétique Clinique, INSERM UMR 1163, Hôpital Necker-Enfants Malades, Institut IMAGINE, Université de Paris, Paris, France.
  • Rodan LH; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Nellaker C; Department of Neurology, Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Lakhani S; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, UK.
  • Mallack EJ; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford, UK.
  • Panzer K; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
  • Sidhu A; Centre for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA.
  • Wentzensen IM; Centre for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA.
  • Lacombe D; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Michaud V; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
  • Alkuraya FS; GeneDx, Gaithersburg, Maryland, USA.
Clin Genet ; 100(4): 468-477, 2021 10.
Article en En | MEDLINE | ID: mdl-34212383
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Predisposición Genética a la Enfermedad / Trastornos del Neurodesarrollo / Mutación / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Predisposición Genética a la Enfermedad / Trastornos del Neurodesarrollo / Mutación / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article