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Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
Schneeberger, Pauline E; Nampoothiri, Sheela; Holling, Tess; Yesodharan, Dhanya; Alawi, Malik; Knisely, A S; Müller, Thomas; Plecko, Barbara; Janecke, Andreas R; Kutsche, Kerstin.
Afiliación
  • Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin 682041, Kerala, India.
  • Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin 682041, Kerala, India.
  • Alawi M; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Knisely AS; Institut für Pathologie, Medizinische Universität Graz, 8010 Graz, Austria.
  • Müller T; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Plecko B; Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, 8010 Graz, Austria.
  • Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Kutsche K; Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Brain ; 144(10): 3036-3049, 2021 11 29.
Article en En | MEDLINE | ID: mdl-34037727
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Colestasis / Proteínas de Transporte Vesicular / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Colestasis / Proteínas de Transporte Vesicular / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: Alemania