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A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
Srour, M; Hamdan, F F; Gan-Or, Z; Labuda, D; Nassif, C; Oskoui, M; Gana-Weisz, M; Orr-Urtreger, A; Rouleau, G A; Michaud, J L.
Affiliation
  • Srour M; Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
  • Hamdan FF; CHU Sainte-Justine Research Center, Montreal, Canada.
  • Gan-Or Z; CHU Sainte-Justine Research Center, Montreal, Canada.
  • Labuda D; Montreal Neurological Institute, McGill University, Montreal, H3A 2B4, Canada.
  • Nassif C; Department of Human Genetics, McGill University, Montreal, Canada.
  • Oskoui M; CHU Sainte-Justine Research Center, Montreal, Canada.
  • Gana-Weisz M; Department of Pediatrics, Université de Montréal, Montreal, Canada.
  • Orr-Urtreger A; CHU Sainte-Justine Research Center, Montreal, Canada.
  • Rouleau GA; Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
  • Michaud JL; The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.
Clin Genet ; 88(1): e1-4, 2015 Jul.
Article in En | MEDLINE | ID: mdl-25930971
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Amino Acid Transport System ASC / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Amino Acid Transport System ASC / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Clin Genet Year: 2015 Document type: Article Affiliation country: Country of publication: