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VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.
Uwineza, Annette; Caberg, Jean-Hubert; Hitayezu, Janvier; Wenric, Stephane; Mutesa, Leon; Vial, Yoann; Drunat, Séverine; Passemard, Sandrine; Verloes, Alain; El Ghouzzi, Vincent; Bours, Vincent.
Affiliation
  • Uwineza A; Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda. Electronic address: A.UWINEZA@ur.ac.rw.
  • Caberg JH; Center for Human Genetics, Centre Hospitalier Universitaire, University of Liege, Liege, Belgium.
  • Hitayezu J; Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.
  • Wenric S; GIGA-Research, Human Genetics Unit, University of Liege, Liege, Belgium.
  • Mutesa L; Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.
  • Vial Y; Department of Genetics, AP HP - Robert Debré University Hospital, Paris, France; PROTECT, INSERM UMR1141, Université de Paris, Paris, France.
  • Drunat S; Department of Genetics, AP HP - Robert Debré University Hospital, Paris, France; PROTECT, INSERM UMR1141, Université de Paris, Paris, France.
  • Passemard S; Department of Genetics, AP HP - Robert Debré University Hospital, Paris, France; PROTECT, INSERM UMR1141, Université de Paris, Paris, France.
  • Verloes A; Department of Genetics, AP HP - Robert Debré University Hospital, Paris, France; PROTECT, INSERM UMR1141, Université de Paris, Paris, France.
  • El Ghouzzi V; PROTECT, INSERM UMR1141, Université de Paris, Paris, France.
  • Bours V; Center for Human Genetics, Centre Hospitalier Universitaire, University of Liege, Liege, Belgium.
Eur J Med Genet ; 62(8): 103704, 2019 Aug.
Article in En | MEDLINE | ID: mdl-31207318
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Full text: 1 Database: MEDLINE Main subject: Brain / Vesicular Transport Proteins / Microcephaly / Nervous System Malformations Limits: Child / Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Brain / Vesicular Transport Proteins / Microcephaly / Nervous System Malformations Limits: Child / Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article