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A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene.
Mongrain, Valérie; van Doesburg, Nicolaas H; Rypens, Françoise; Fallet-Bianco, Catherine; Maassen, Justine; Dufort-Gervais, Julien; Côté, Lucie; Major, Philippe.
Affiliation
  • Mongrain V; Department of Neuroscience, Université de Montréal, Montreal, QC, Canada. valerie.mongrain@umontreal.ca.
  • van Doesburg NH; Center for Advanced Research in Sleep Medicine, Recherche CIUSSS-NIM (site Hôpital du Sacré-Coeur de Montréal), 5400 Gouin West blvd., Montreal, QC, H4J1C5, Canada. valerie.mongrain@umontreal.ca.
  • Rypens F; Centre intégré de diagnostic prénatal (CIDP) and Pediatric Neurology Service, Centre Hospitalier Universitaire (CHU) Ste-Justine, 3175 Chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T1C5, Canada.
  • Fallet-Bianco C; Centre intégré de diagnostic prénatal (CIDP) and Pediatric Neurology Service, Centre Hospitalier Universitaire (CHU) Ste-Justine, 3175 Chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T1C5, Canada.
  • Maassen J; Centre intégré de diagnostic prénatal (CIDP) and Pediatric Neurology Service, Centre Hospitalier Universitaire (CHU) Ste-Justine, 3175 Chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T1C5, Canada.
  • Dufort-Gervais J; Centre intégré de diagnostic prénatal (CIDP) and Pediatric Neurology Service, Centre Hospitalier Universitaire (CHU) Ste-Justine, 3175 Chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T1C5, Canada.
  • Côté L; Center for Advanced Research in Sleep Medicine, Recherche CIUSSS-NIM (site Hôpital du Sacré-Coeur de Montréal), 5400 Gouin West blvd., Montreal, QC, H4J1C5, Canada.
  • Major P; Centre intégré de diagnostic prénatal (CIDP) and Pediatric Neurology Service, Centre Hospitalier Universitaire (CHU) Ste-Justine, 3175 Chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T1C5, Canada.
BMC Neurol ; 20(1): 324, 2020 Sep 01.
Article in En | MEDLINE | ID: mdl-32873234
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tuberous Sclerosis / Ultrasonography, Prenatal / Tuberous Sclerosis Complex 2 Protein Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Adult / Female / Humans / Pregnancy Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tuberous Sclerosis / Ultrasonography, Prenatal / Tuberous Sclerosis Complex 2 Protein Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Adult / Female / Humans / Pregnancy Language: En Journal: BMC Neurol Journal subject: NEUROLOGIA Year: 2020 Document type: Article Affiliation country: Country of publication: