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A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide; Rosti, Basak; Issa, Mahmoud Y; Musaev, Damir; Bhat, Gifty; Scott, Eric; Silhavy, Jennifer L; Stanley, Valentina; Rosti, Rasim O; Gleeson, Jeremy W; Imam, Farhad B; Zaki, Maha S; Gleeson, Joseph G.
Afiliación
  • Marin-Valencia I; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Novarino G; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Johansen A; Institute of Science and Technology Austria (IST), Klosterneuburg, Niederösterreich, Austria.
  • Rosti B; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
  • Issa MY; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Musaev D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Bhat G; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
  • Scott E; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Silhavy JL; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
  • Rosti RO; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Gleeson JW; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
  • Imam FB; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
  • Zaki MS; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, La Jolla, California, USA.
J Med Genet ; 55(1): 48-54, 2018 01.
Article en En | MEDLINE | ID: mdl-28626029
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Efecto Fundador / Proteínas de Transporte Vesicular / Epilepsia / Estudios de Asociación Genética / Trastornos del Neurodesarrollo / Microcefalia / Mutación Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Efecto Fundador / Proteínas de Transporte Vesicular / Epilepsia / Estudios de Asociación Genética / Trastornos del Neurodesarrollo / Microcefalia / Mutación Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: J Med Genet Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos