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Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder.
Nishikawa, Masashi; Scala, Marcello; Umair, Muhammad; Ito, Hidenori; Waqas, Ahmed; Striano, Pasquale; Zara, Federico; Costain, Gregory; Capra, Valeria; Nagata, Koh-Ichi.
Afiliação
  • Nishikawa M; Department of Molecular Neurobiology, Aichi Developmental Disability Center, Kasugai, Japan.
  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy knagata@inst-hsc.jp mscala.md@gmail.com.
  • Umair M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Ito H; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
  • Waqas A; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan.
  • Striano P; Department of Molecular Neurobiology, Aichi Developmental Disability Center, Kasugai, Japan.
  • Zara F; Department Zoology, Division of Science and Technology, University of Education, Lahore, Pakistan.
  • Costain G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Capra V; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Nagata KI; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genova, Italy.
J Med Genet ; 60(3): 223-232, 2023 03.
Article em En | MEDLINE | ID: mdl-35595279
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Limite: Adolescent / Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Limite: Adolescent / Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão