uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
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| Title: | uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. |
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| Authors: | Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Rovelet-Lecrux A; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Cassinari K; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Brischoux-Boucher E; Centre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Drouot N; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Richard AC; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Vera G; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Coutant S; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Quenez O; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Rolain M; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Bonnet C; Department of Genetics, Nancy University Hospital, Nancy, France., Bronner M; Department of Genetics, Nancy University Hospital, Nancy, France., Lecourtois M; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France. |
| Source: | Human mutation [Hum Mutat] 2022 Sep; Vol. 43 (9), pp. 1239-1248. Date of Electronic Publication: 2022 May 17. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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