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Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
Saugier-Veber, Pascale; Marguet, Florent; Lecoquierre, François; Adle-Biassette, Homa; Guimiot, Fabien; Cipriani, Sara; Patrier, Sophie; Brasseur-Daudruy, Marie; Goldenberg, Alice; Layet, Valérie; Capri, Yline; Gérard, Marion; Frébourg, Thierry; Laquerrière, Annie.
Affiliation
  • Saugier-Veber P; Department of Genetics, Normandie Univ, UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F76000, Rouen, France.
  • Marguet F; Department of Pathology, Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, F76000, Rouen, France.
  • Lecoquierre F; Department of Genetics, Normandie Univ, UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F76000, Rouen, France.
  • Adle-Biassette H; Department of Pathology, Lariboisière Hospital, APHP, F75000, Paris Diderot University, Sorbonne Paris Cité, PROTECT INSERM, F75019, Paris, France.
  • Guimiot F; Department of Genetics and Cytogenetics, Foetopathology Unit, Robert Debré Hospital, APHP, Paris Diderot University, INSERM U1141, F75019, Paris, France.
  • Cipriani S; Paris Diderot University, Sorbonne Paris Cité, PROTECT INSERM, F75019, Paris, France.
  • Patrier S; Department of Pathology, Rouen University Hospital, F76000, Rouen, France.
  • Brasseur-Daudruy M; Department of Radiology, Rouen University Hospital, F76000, Rouen, France.
  • Goldenberg A; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F76000, Rouen, France.
  • Layet V; Department of Genetics and Cytogenetics, Le Havre Hospital, F76600, Le Havre, France.
  • Capri Y; Department of Genetics, Robert Debré Hospital, APHP, F75019, Paris, France.
  • Gérard M; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Caen University Hospital, F14000, Caen, France.
  • Frébourg T; Department of Genetics, Normandie Univ, UNIROUEN, INSERM U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, F76000, Rouen, France.
  • Laquerrière A; Department of Pathology, Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, F76000, Rouen, France. Annie.laquerriere@chu-rouen.fr.
Acta Neuropathol Commun ; 5(1): 36, 2017 05 01.
Article de En | MEDLINE | ID: mdl-28460636
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéines de transport / Épendyme / Maladies foetales / Mutation perte de fonction / Hydrocéphalie Type d'étude: Etiology_studies Limites: Adult / Female / Humans Langue: En Journal: Acta Neuropathol Commun Année: 2017 Type de document: Article Pays d'affiliation: France Pays de publication: Royaume-Uni
Texte intégral
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XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéines de transport / Épendyme / Maladies foetales / Mutation perte de fonction / Hydrocéphalie Type d'étude: Etiology_studies Limites: Adult / Female / Humans Langue: En Journal: Acta Neuropathol Commun Année: 2017 Type de document: Article Pays d'affiliation: France Pays de publication: Royaume-Uni