Your browser doesn't support javascript.
loading
A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
Kaçar Bayram, Ayse; Per, Hüseyin; Quon, Jennifer; Canpolat, Mehmet; Ülgen, Ege; Dogan, Hakki; Gumus, Hakan; Kumandas, Sefer; Bayram, Nurettin; Bilguvar, Kaya; Çaglayan, Ahmet Okay.
Afiliación
  • Kaçar Bayram A; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: draysebayram@gmail.com.
  • Per H; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: huseyinper@yahoo.com.
  • Quon J; Department of Neurosurgery, Yale School of Medicine, New Haven, USA; Department of Neurobiology, Yale School of Medicine, New Haven, USA; Department of Genetics, Yale School of Medicine, New Haven, USA. Electronic address: Jennifer.quon@yale.edu.
  • Canpolat M; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: drmehmetcanpolat@gmail.com.
  • Ülgen E; Department of Neurosurgery, Yale School of Medicine, New Haven, USA; Department of Neurobiology, Yale School of Medicine, New Haven, USA; Department of Genetics, Yale School of Medicine, New Haven, USA. Electronic address: egeulgen@gmail.com.
  • Dogan H; Department of Ophthalmology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: doganh@erciyes.edu.tr.
  • Gumus H; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: hakgumus33@yahoo.com.
  • Kumandas S; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: skumandas@hotmail.com.
  • Bayram N; Department of Ophthalmology, Research and Training Hospital, Kayseri, Turkey. Electronic address: drnbayram@gmail.com.
  • Bilguvar K; Department of Genetics and Yale Center for Genome Analysis, Yale School of Medicine, New Haven, USA. Electronic address: kaya.bilguvar@yale.edu.
  • Çaglayan AO; Department of Neurosurgery, Yale School of Medicine, New Haven, USA; Department of Neurobiology, Yale School of Medicine, New Haven, USA; Department of Genetics, Yale School of Medicine, New Haven, USA. Electronic address: okaycaglayan@yahoo.com.
Eur J Paediatr Neurol ; 19(6): 743-6, 2015 Nov.
Article en En | MEDLINE | ID: mdl-26190014
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Blefaroptosis / Reflejo Anormal / Cinesinas / Cardiopatías Congénitas / Anomalías Maxilomandibulares / Enfermedades del Sistema Nervioso Límite: Adult / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Blefaroptosis / Reflejo Anormal / Cinesinas / Cardiopatías Congénitas / Anomalías Maxilomandibulares / Enfermedades del Sistema Nervioso Límite: Adult / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2015 Tipo del documento: Article