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TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
Lemattre, C; Thevenon, J; Duffourd, Y; Nambot, S; Haquet, E; Vuadelle, B; Genevieve, D; Sarda, P; Bruel, A L; Kuentz, P; Wells, C F; Faivre, L; Willems, M.
Affiliation
  • Lemattre C; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.
  • Thevenon J; Equipe GAD, UMR1231, Université de Bourgogne Franche Comté, Dijon, France.
  • Duffourd Y; Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU, Grenoble, France.
  • Nambot S; Equipe GAD, UMR1231, Université de Bourgogne Franche Comté, Dijon, France.
  • Haquet E; Orphanomix, SATT Grand Est, Dijon, France.
  • Vuadelle B; UF Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.
  • Genevieve D; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD, Hôpital d'enfants, CHU, Dijon, France.
  • Sarda P; Equipe GAD, UMR1231, Université de Bourgogne Franche Comté, Dijon, France.
  • Bruel AL; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.
  • Kuentz P; Lycée Philippe Lamour, Nîmes, France.
  • Wells CF; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.
  • Faivre L; Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.
  • Willems M; Equipe GAD, UMR1231, Université de Bourgogne Franche Comté, Dijon, France.
Am J Med Genet A ; 176(12): 2813-2818, 2018 12.
Article in En | MEDLINE | ID: mdl-30365874
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Repressor Proteins / Abnormalities, Multiple / Nuclear Proteins / Receptors, Cytoplasmic and Nuclear / Amino Acid Substitution / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Am J Med Genet A Year: 2018 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Repressor Proteins / Abnormalities, Multiple / Nuclear Proteins / Receptors, Cytoplasmic and Nuclear / Amino Acid Substitution / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Am J Med Genet A Year: 2018 Document type: Article