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Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.
Sinnige, P F; van Ravenswaaij-Arts, C M A; Caruso, P; Lin, A E; Boon, M; Rahikkala, E; Callewaert, B; Meiners, L C.
Afiliação
  • Sinnige PF; University of Groningen, University Medical Centre Groningen, Department of Radiology, Groningen, The Netherlands.
  • van Ravenswaaij-Arts CMA; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.
  • Caruso P; Department of Radiology and the Medical Genetics Unit, Department of Pediatrics, Massachusetts General Hospital, USA.
  • Lin AE; Department of Radiology and the Medical Genetics Unit, Department of Pediatrics, Massachusetts General Hospital, USA.
  • Boon M; University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, The Netherlands.
  • Rahikkala E; PEDEGO Research Unit, Medical Research Center, Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Meiners LC; University of Groningen, University Medical Centre Groningen, Department of Radiology, Groningen, The Netherlands. Electronic address: l.c.meiners@umcg.nl.
Eur J Paediatr Neurol ; 21(6): 912-920, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28757335
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Cútis Laxa Idioma: En Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Cútis Laxa Idioma: En Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda