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Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
Harms, Frederike L; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P; Nampoothiri, Sheela; Kutsche, Kerstin.
Afiliación
  • Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Parthasarathy P; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Zorndt D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Fuchs S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • McKeown C; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
  • Sampaio H; Department of Women and Children's Health, University of New South Wales, Randwick Campus, Randwick, NSW, Australia.
  • Radhakrishnan N; Sydney Children's Hospital, Randwick, NSW, Australia.
  • Radhakrishnan SK; Department of Ophthalmology, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India.
  • Gorce M; Department of Neurology, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India.
  • Navet B; Department of Metabolic Disease, Children University Hospital, Toulouse, France.
  • Ziegler A; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.
  • Sachdev R; MitoLab, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers, France.
  • Robertson SP; Department of Biochemistry and Genetics, University Hospital of Angers, Angers, France.
  • Nampoothiri S; MitoLab, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers, France.
  • Kutsche K; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
Hum Mutat ; 41(9): 1645-1661, 2020 09.
Article en En | MEDLINE | ID: mdl-32623794
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Convulsiones / Sobrecrecimiento Gingival / Proteínas Activadoras de GTPasa / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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XML
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Convulsiones / Sobrecrecimiento Gingival / Proteínas Activadoras de GTPasa / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Alemania