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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.
Thauvin-Robinet, C; Duplomb-Jego, L; Limoge, F; Picot, D; Masurel, A; Terriat, B; Champilou, C; Minot, D; St-Onge, J; Kuentz, P; Duffourd, Y; Thevenon, J; Rivière, J-B; Faivre, L.
Affiliation
  • Thauvin-Robinet C; FHU-TRANSLAD, CHU Dijon, France.
  • Duplomb-Jego L; Equipe EA4271 GAD, Université de Bourgogne, Dijon, France.
  • Limoge F; Centre de Référence Maladies Rares, Anomalies du Développement et Syndrome Malformatifs de l'Est et Centre de Génétique, Hôpital d'Enfants, CHU, Dijon, France.
  • Picot D; FHU-TRANSLAD, CHU Dijon, France.
  • Masurel A; Equipe EA4271 GAD, Université de Bourgogne, Dijon, France.
  • Terriat B; FHU-TRANSLAD, CHU Dijon, France.
  • Champilou C; Equipe EA4271 GAD, Université de Bourgogne, Dijon, France.
  • Minot D; FHU-TRANSLAD, CHU Dijon, France.
  • St-Onge J; Equipe EA4271 GAD, Université de Bourgogne, Dijon, France.
  • Kuentz P; FHU-TRANSLAD, CHU Dijon, France.
  • Duffourd Y; Centre de Référence Maladies Rares, Anomalies du Développement et Syndrome Malformatifs de l'Est et Centre de Génétique, Hôpital d'Enfants, CHU, Dijon, France.
  • Thevenon J; Service d'Angiologie, CHU Bocage, Dijon, France.
  • Rivière JB; FHU-TRANSLAD, CHU Dijon, France.
  • Faivre L; Equipe EA4271 GAD, Université de Bourgogne, Dijon, France.
Clin Genet ; 89(5): e1-4, 2016 May.
Article in En | MEDLINE | ID: mdl-26660953
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Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Abnormalities, Multiple / Carrier Proteins / Eye Abnormalities / Megalencephaly / Growth Disorders / Learning Disabilities / Membrane Proteins Type of study: Prognostic_studies Limits: Adolescent / Female / Humans / Male Language: En Journal: Clin Genet Year: 2016 Type: Article Affiliation country: France
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Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Abnormalities, Multiple / Carrier Proteins / Eye Abnormalities / Megalencephaly / Growth Disorders / Learning Disabilities / Membrane Proteins Type of study: Prognostic_studies Limits: Adolescent / Female / Humans / Male Language: En Journal: Clin Genet Year: 2016 Type: Article Affiliation country: France