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Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.
Abu-Libdeh, Bassam; Ashhab, Motee; Shahrour, Maher; Daana, Muhannad; Dudin, Anwar; Elpeleg, Orly; Edvardson, Simon; Harel, Tamar.
  • Abu-Libdeh B; Department of Pediatrics, Makassed Hospital and Al-Quds University, East Jerusalem, Palestine.
  • Ashhab M; Department of Pediatrics, Makassed Hospital and Al-Quds University, East Jerusalem, Palestine.
  • Shahrour M; Department of Pediatrics, Makassed Hospital and Al-Quds University, East Jerusalem, Palestine.
  • Daana M; Child Development Centers, Clalit and Maccabi Health Care Services, Jerusalem, Israel.
  • Dudin A; Consultant Pediatric Neurologist, Takween Center, Ramallah, Palestine.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.
  • Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.
  • Harel T; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.
Neurogenetics ; 20(4): 209-213, 2019 10.
Article en En | MEDLINE | ID: mdl-31372774
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Discapacidades del Desarrollo / Mutación del Sistema de Lectura / Proteínas Ligadas a GPI / Netrinas / Homocigoto / Hipotonía Muscular Límite: Child / Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Discapacidades del Desarrollo / Mutación del Sistema de Lectura / Proteínas Ligadas a GPI / Netrinas / Homocigoto / Hipotonía Muscular Límite: Child / Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article