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Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.
Tran, Viviane; Goyette, Marie-Anne; Martínez-García, Mónica; Jiménez de Domingo, Ana; Fernández-Mayoralas, Daniel Martín; Fernández-Perrone, Ana Laura; Tirado, Pilar; Calleja-Pérez, Beatriz; Álvarez, Sara; Côté, Jean-François; Fernández-Jaén, Alberto.
Affiliation
  • Tran V; Laboratory of Cytoskeletal Organization and Cell Migration, Montreal Clinical Research Institute (IRCM), Montréal, QC, Canada.
  • Goyette MA; Department of Biochemistry and Molecular Medicine, Université De Montréal, Montréal, QC, Canada.
  • Martínez-García M; Laboratory of Cytoskeletal Organization and Cell Migration, Montreal Clinical Research Institute (IRCM), Montréal, QC, Canada.
  • Jiménez de Domingo A; Molecular Biology Programs, Université De Montréal, Montréal, QC, Canada.
  • Fernández-Mayoralas DM; Department of Genomics and Medicine, NIMGenetics, Madrid, Spain.
  • Fernández-Perrone AL; Department of Pediatric Neurology. ónsalud. Madrid. Spain.
  • Tirado P; Department of Pediatric Neurology. ónsalud. Madrid. Spain.
  • Calleja-Pérez B; Department of Pediatric Neurology. ónsalud. Madrid. Spain.
  • Álvarez S; Department of Pediatric Neurology. Hospital Universitario La Paz. Madrid. Spain.
  • Côté JF; Pediatric Primary Care. C. S. Doctor Cirajas. Madrid. Spain.
  • Fernández-Jaén A; Department of Genomics and Medicine, NIMGenetics, Madrid, Spain.
Small GTPases ; 13(1): 48-55, 2022 01.
Article in En | MEDLINE | ID: mdl-33660564
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autism Spectrum Disorder / Intellectual Disability Limits: Child / Child, preschool / Humans / Male Language: En Journal: Small GTPases Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autism Spectrum Disorder / Intellectual Disability Limits: Child / Child, preschool / Humans / Male Language: En Journal: Small GTPases Year: 2022 Document type: Article Affiliation country: Country of publication: