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Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor.
Darcha, Claude; Laffargue, Fanny; Boutaud, Lucile; Gallot, Denis; Dauphin, Claire; Garcier, Jean Marc; Achaiaa, Amale; Nitschke, Patrick; Fourrage, Cécile; Goumy, Carole; Attie-Bitach, Tania.
Afiliação
  • Darcha C; Service d'Anatomopathologie, CHU Estaing, Clermont-Ferrand, France.
  • Laffargue F; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France.
  • Boutaud L; Service d'Histologie-Embryologie-Cytogénétique, Unité d'Embryo-Foetopathologie, Hôpital Necker-Enfants Malades, APHP, Paris, France.
  • Gallot D; Université de Paris, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Dauphin C; Genetics, Reproduction and Development (GReD) Laboratory, Clermont Auvergne University, CNRS UMR 6293, Inserm U1103, translational approach to epithelial injury and repair team, Clermont-Ferrand, France.
  • Garcier JM; Service de Cardiologie, Centre de Compétence M3C, CHU Clermont-Ferrand, Clermont-Ferrand, France.
  • Achaiaa A; Laboratoire d'Anatomie, UFR de Médecine, Université Clermont-Auvergne, Clermont-Ferrand, France.
  • Nitschke P; Service d'Histologie-Embryologie-Cytogénétique, Unité d'Embryo-Foetopathologie, Hôpital Necker-Enfants Malades, APHP, Paris, France.
  • Fourrage C; Bioinformatics Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Goumy C; Bioinformatics Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Attie-Bitach T; Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Clermont-Ferrand, France.
Clin Genet ; 100(3): 348-349, 2021 09.
Article em En | MEDLINE | ID: mdl-34114225
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Quinases Ciclina-Dependentes / Rim Displásico Multicístico / Miocárdio Ventricular não Compactado Isolado / Incisivo / Anodontia Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Quinases Ciclina-Dependentes / Rim Displásico Multicístico / Miocárdio Ventricular não Compactado Isolado / Incisivo / Anodontia Idioma: En Ano de publicação: 2021 Tipo de documento: Article