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Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation.
Raffa, Lina; Matton, Marie-Pierre; Michaud, Jacques; Rossignol, Elsa; Decarie, Jean-Claude; Ospina, Luis H.
Afiliación
  • Raffa L; Department of Pediatric Ophthalmology, CHU Sainte Justine Hospital, University of Montreal, Montreal, Que.
  • Matton MP; Department of Pediatric Ophthalmology, CHU Sainte Justine Hospital, University of Montreal, Montreal, Que.
  • Michaud J; Department of Genetics, CHU Sainte Justine Hospital, University of Montreal, Montreal, Que.
  • Rossignol E; Department of Neurosciences, CHU Sainte Justine Hospital, University of Montreal, Montreal, Que.
  • Decarie JC; Department of Radiology, CHU Sainte Justine Hospital, University of Montreal, Montreal, Que.
  • Ospina LH; Department of Pediatric Ophthalmology, CHU Sainte Justine Hospital, University of Montreal, Montreal, Que. Electronic address: lhospina@gmail.com.
Can J Ophthalmol ; 52(5): e169-e171, 2017 10.
Article en En | MEDLINE | ID: mdl-28985824

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Nervio Óptico / Cerebelo / Anomalías del Ojo / Cinesinas / Mutación Missense Límite: Humans / Infant / Male Idioma: En Revista: Can J Ophthalmol Año: 2017 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Nervio Óptico / Cerebelo / Anomalías del Ojo / Cinesinas / Mutación Missense Límite: Humans / Infant / Male Idioma: En Revista: Can J Ophthalmol Año: 2017 Tipo del documento: Article
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