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Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Bruel, Ange-Line; Ganga, Anil Kumar; Nosková, Lenka; Valenzuela, Irene; Martinovic, Jelena; Duffourd, Yannis; Zikánová, Marie; Majer, Filip; Kmoch, Stanislav; Mohler, Markéta; Sun, Jingbo; Sweeney, Lauren K; Martínez-Gil, Núria; Thauvin-Robinet, Christel; Breslow, David K.
Afiliação
  • Bruel AL; INSERM U1231 Génétique des Anomalies du Développement (GAD), University Bourgogne Franche-Comté, 21070 Dijon, France.
  • Ganga AK; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU-TRANSLAD), Centre Hospitalo-Universitaire (CHU) Dijon Bourgogne, 21079 Dijon, France.
  • Nosková L; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA.
  • Valenzuela I; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic.
  • Martinovic J; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035 Barcelona, Spain.
  • Duffourd Y; Medical Genetics Group, Vall d'Hebron Research Institute,08035 Barcelona, Spain.
  • Zikánová M; Unit of Embryo-Fetal Pathology, AP-HP, Antoine Béclère Hospital, Paris Saclay University, 92141 Clamart, France.
  • Majer F; INSERM U1231 Génétique des Anomalies du Développement (GAD), University Bourgogne Franche-Comté, 21070 Dijon, France.
  • Kmoch S; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU-TRANSLAD), Centre Hospitalo-Universitaire (CHU) Dijon Bourgogne, 21079 Dijon, France.
  • Mohler M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic.
  • Sun J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic.
  • Sweeney LK; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 128 08, Czech Republic.
  • Martínez-Gil N; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava 708 52, Czech Republic.
  • Thauvin-Robinet C; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA.
  • Breslow DK; Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA.
Hum Mol Genet ; 32(18): 2822-2831, 2023 09 05.
Article em En | MEDLINE | ID: mdl-37384395
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Orofaciodigitais / Proteínas Nucleares Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Orofaciodigitais / Proteínas Nucleares Limite: Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França