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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.
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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  Data: uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Coursimault+J%22">Coursimault J</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Rovelet-Lecrux+A%22">Rovelet-Lecrux A</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Cassinari+K%22">Cassinari K</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Brischoux-Boucher+E%22">Brischoux-Boucher E</searchLink>; Centre de Génétique Humaine, Université de Franche-Comté, CHU Besançon, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Drouot+N%22">Drouot N</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Richard+AC%22">Richard AC</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Vera+G%22">Vera G</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Coutant+S%22">Coutant S</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Quenez+O%22">Quenez O</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Rolain+M%22">Rolain M</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Bonnet+C%22">Bonnet C</searchLink>; Department of Genetics, Nancy University Hospital, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Bronner+M%22">Bronner M</searchLink>; Department of Genetics, Nancy University Hospital, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Lecourtois+M%22">Lecourtois M</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4-Génomique, Rouen, France.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2022 Sep; Vol. 43 (9), pp. 1239-1248. <i>Date of Electronic Publication: </i>2022 May 17.
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