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SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer, G; Marek-Yagel, D; Eyal, E; Barel, O; Oz Levi, D; Hoffmann, C; Ruzzo, E K; Ganelin-Cohen, E; Lancet, D; Pras, E; Rechavi, G; Nissenkorn, A; Anikster, Y; Goldstein, D B; Ben Zeev, B.
Affiliation
  • Heimer G; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Ramat Gan, Israel.
  • Marek-Yagel D; The Pinchas Borenstein Talpiot Medical Leadership Program, Ramat Gan, Israel.
  • Eyal E; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Ramat Gan, Israel.
  • Barel O; Cancer Research Center, Pediatric Hemato/oncology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel.
  • Oz Levi D; Cancer Research Center, Pediatric Hemato/oncology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel.
  • Hoffmann C; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
  • Ruzzo EK; Diagnostic Imaging Unit, The Chaim Sheba Medical Center, Ramat Gan, Israel.
  • Ganelin-Cohen E; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC, USA.
  • Lancet D; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Ramat Gan, Israel.
  • Pras E; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
  • Rechavi G; Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.
  • Nissenkorn A; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Anikster Y; Cancer Research Center, Pediatric Hemato/oncology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Medical Center, Ramat Gan, Israel.
  • Goldstein DB; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Ben Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Ramat Gan, Israel.
Clin Genet ; 88(4): 327-35, 2015 Oct.
Article in En | MEDLINE | ID: mdl-26138499

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acid Transport System ASC / Agenesis of Corpus Callosum / Exome / Intellectual Disability / Microcephaly / Muscle Spasticity Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Israel Country of publication: Dinamarca

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Amino Acid Transport System ASC / Agenesis of Corpus Callosum / Exome / Intellectual Disability / Microcephaly / Muscle Spasticity Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Israel Country of publication: Dinamarca