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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-34037727
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Cholestasis / Vesicular Transport Proteins / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Child, preschool / Humans / Infant / Male / Newborn Language: En Journal: Brain Year: 2021 Document type: Article Affiliation country: Germany Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Cholestasis / Vesicular Transport Proteins / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Child, preschool / Humans / Infant / Male / Newborn Language: En Journal: Brain Year: 2021 Document type: Article Affiliation country: Germany Country of publication: United kingdom