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Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.
Cabet, Sara; Lesca, Gaetan; Labalme, Audrey; Des Portes, Vincent; Guibaud, Laurent; Sanlaville, Damien; Pons, Linda.
Affiliation
  • Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, France; Department of Radiology, Hospices Civils de Lyon, Groupement Hospitalier Est, France.
  • Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, France; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Claude Bernard Lyon 1 University, France; Claude Bernard Lyon 1 University, France.
  • Labalme A; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, France.
  • Des Portes V; Department of Pediatric Neurology, Hospices Civils de Lyon, Groupement Hospitalier Est, France; Claude Bernard Lyon 1 University, France.
  • Guibaud L; Department of Radiology, Hospices Civils de Lyon, Groupement Hospitalier Est, France; Claude Bernard Lyon 1 University, France.
  • Sanlaville D; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, France; Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Claude Bernard Lyon 1 University, France; Claude Bernard Lyon 1 University, France.
  • Pons L; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, France; Claude Bernard Lyon 1 University, France. Electronic address: linda.pons@chu-lyon.fr.
Eur J Med Genet ; 63(6): 103897, 2020 Jun.
Article in En | MEDLINE | ID: mdl-32092440
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vision Disorders / Developmental Disabilities / Mutation, Missense / Autism Spectrum Disorder Limits: Child / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: France Country of publication: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vision Disorders / Developmental Disabilities / Mutation, Missense / Autism Spectrum Disorder Limits: Child / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: France Country of publication: Netherlands