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Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Wagner, Matias; Skorobogatko, Yuliya; Pode-Shakked, Ben; Powell, Cynthia M; Alhaddad, Bader; Seibt, Annette; Barel, Ortal; Heimer, Gali; Hoffmann, Chen; Demmer, Laurie A; Perilla-Young, Yezmin; Remke, Marc; Wieczorek, Dagmar; Navaratnarajah, Tharsini; Lichtner, Peter; Klee, Dirk; Shamseldin, Hanan E; Al Mutairi, Fuad; Mayatepek, Ertan; Strom, Tim; Meitinger, Thomas; Alkuraya, Fowzan S; Anikster, Yair; Saltiel, Alan R; Distelmaier, Felix.
Afiliación
  • Wagner M; Institute of Human Genetics, Technical University München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany. Electronic address: Matias.Wagner@mri.tum.de.
  • Skorobogatko Y; Department of Medicine, University of California, San Diego School of Medicine, La Jolla, CA 92093, USA.
  • Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel.
  • Powell CM; Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, 27599, USA.
  • Alhaddad B; Institute of Human Genetics, Technical University München, 81675 Munich, Germany.
  • Seibt A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.
  • Barel O; Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Heimer G; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Hoffmann C; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Department of Radiology, Sheba Medical Center, 52621 Tel-Hashomer, Israel.
  • Demmer LA; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, 28203, USA.
  • Perilla-Young Y; Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, 27599, USA.
  • Remke M; Department of Pediatric Oncology, Hematology, and Clinical Immunology, Medical Faculty, University Hospital Düsseldorf, 40225 Düsseldorf, Germany.
  • Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany.
  • Navaratnarajah T; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.
  • Lichtner P; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Klee D; Department of Diagnostic and Interventional Radiology, Heinrich-Heine University, 40225 Düsseldorf, Germany.
  • Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia.
  • Al Mutairi F; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, 12713 Riyadh, Saudi Arabia.
  • Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.
  • Strom T; Institute of Human Genetics, Technical University München, 81675 Munich, Germany.
  • Meitinger T; Institute of Human Genetics, Technical University München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia.
  • Anikster Y; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel.
  • Saltiel AR; Department of Medicine, University of California, San Diego School of Medicine, La Jolla, CA 92093, USA.
  • Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany. Electronic address: felix.distelmaier@med.uni-duesseldorf.de.
Am J Hum Genet ; 106(2): 246-255, 2020 02 06.
Article en En | MEDLINE | ID: mdl-32004447
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Trastornos de Alimentación y de la Ingestión de Alimentos / Proteínas Activadoras de GTPasa / Trastornos del Neurodesarrollo / Hipotonía Muscular / Mutación / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Trastornos de Alimentación y de la Ingestión de Alimentos / Proteínas Activadoras de GTPasa / Trastornos del Neurodesarrollo / Hipotonía Muscular / Mutación / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article