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Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.
Moutton, S; Bruel, A-L; Assoum, M; Chevarin, M; Sarrazin, E; Goizet, C; Guerrot, A-M; Charollais, A; Charles, P; Heron, D; Faudet, A; Houcinat, N; Vitobello, A; Tran-Mau-Them, F; Philippe, C; Duffourd, Y; Thauvin-Robinet, C; Faivre, L.
Affiliation
  • Moutton S; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.
  • Bruel AL; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.
  • Assoum M; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.
  • Chevarin M; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.
  • Sarrazin E; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.
  • Goizet C; Caribbean Reference Center for Rare Neurological and Neuromuscular Diseases, Fort de France University Hospital, Fort de France, France.
  • Guerrot AM; Reference Center for Developmental Anomalies, Medical Genetics Department, CHU Bordeaux and Laboratoire MRGM, INSERM U1211, University of Bordeaux, Bordeaux, France.
  • Charollais A; Department of Genetics, Rouen University Hospital, Rouen, France.
  • Charles P; Department of Neonatal Medicine and Intensive Care, Neuropediatrics and Reference Centre for Learning Disabilities, Rouen University Hospital, Rouen, France.
  • Heron D; Reference Center for Rare Intellectual Disability Disorders, AP-HP, Pitié-Salpêtrière Hospital, Paris, France and Clinical Research Group "intellectual disability and autism", UPMC, Paris, France.
  • Faudet A; Reference Center for Rare Intellectual Disability Disorders, AP-HP, Pitié-Salpêtrière Hospital, Paris, France and Clinical Research Group "intellectual disability and autism", UPMC, Paris, France.
  • Houcinat N; Reference Center for Rare Intellectual Disability Disorders, AP-HP, Pitié-Salpêtrière Hospital, Paris, France and Clinical Research Group "intellectual disability and autism", UPMC, Paris, France.
  • Vitobello A; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.
  • Tran-Mau-Them F; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.
  • Philippe C; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.
  • Duffourd Y; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.
  • Thauvin-Robinet C; INSERM U1231, LNC UMR1231 GAD, Burgundy University, Dijon, France.
  • Faivre L; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.
Clin Genet ; 93(6): 1172-1178, 2018 06.
Article in En | MEDLINE | ID: mdl-29460436
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Full text: 1 Database: MEDLINE Main subject: Disks Large Homolog 4 Protein / Marfan Syndrome / Intellectual Disability / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2018 Type: Article Affiliation country: France
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Disks Large Homolog 4 Protein / Marfan Syndrome / Intellectual Disability / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2018 Type: Article Affiliation country: France