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Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Baple, Emma L; Maroofian, Reza; Chioza, Barry A; Izadi, Maryam; Cross, Harold E; Al-Turki, Saeed; Barwick, Katy; Skrzypiec, Anna; Pawlak, Robert; Wagner, Karin; Coblentz, Roselyn; Zainy, Tala; Patton, Michael A; Mansour, Sahar; Rich, Phillip; Qualmann, Britta; Hurles, Matt E; Kessels, Michael M; Crosby, Andrew H.
  • Baple EL; Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK.
  • Maroofian R; Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK.
  • Chioza BA; Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK.
  • Izadi M; Institute for Biochemistry I, Jena University Hospital and Friedrich Schiller University Jena, D-07743 Jena, Germany.
  • Cross HE; Department of Ophthalmology and Vision Science, University of Arizona School of Medicine, 655 N. Alvernon Way, Tucson, AZ 85711, USA.
  • Al-Turki S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Barwick K; Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK.
  • Skrzypiec A; Laboratory of Neuronal Plasticity & Behaviour, University of Exeter Medical School, Hatherly Laboratories, Prince of Wales Road, Exeter EX4 4PS, UK.
  • Pawlak R; Laboratory of Neuronal Plasticity & Behaviour, University of Exeter Medical School, Hatherly Laboratories, Prince of Wales Road, Exeter EX4 4PS, UK.
  • Wagner K; Windows of Hope Genetic Study, Holmes County, OH 44687, USA.
  • Coblentz R; Windows of Hope Genetic Study, Holmes County, OH 44687, USA.
  • Zainy T; South West Thames Regional Genetics Service, St. George's Healthcare NHS Trust, London SW17 0QT, UK.
  • Patton MA; Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK.
  • Mansour S; South West Thames Regional Genetics Service, St. George's Healthcare NHS Trust, London SW17 0QT, UK.
  • Rich P; Department of Neuroradiology, St. George's Hospital, London SW17 0QT, UK.
  • Qualmann B; Institute for Biochemistry I, Jena University Hospital and Friedrich Schiller University Jena, D-07743 Jena, Germany.
  • Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Kessels MM; Institute for Biochemistry I, Jena University Hospital and Friedrich Schiller University Jena, D-07743 Jena, Germany.
  • Crosby AH; Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke's Campus, Magdalen Road, Exeter EX1 2LU, UK. Electronic address: a.h.crosby@exeter.ac.uk.
Am J Hum Genet ; 94(1): 87-94, 2014 Jan 02.
Article en En | MEDLINE | ID: mdl-24239382
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones / Discapacidades del Desarrollo / Megalencefalia / Proteínas de Microfilamentos / Mutación Límite: Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones / Discapacidades del Desarrollo / Megalencefalia / Proteínas de Microfilamentos / Mutación Límite: Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article