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Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Martínez-Granero, Francisco; Martínez-Cayuelas, Elena; Rodilla, Cristina; Núñez-Moreno, Gonzalo; Rodríguez de Alba, Marta; Blanco-Kelly, Fiona; Romero, Raquel; Minguez, Pablo; Ayuso, Carmen; Lorda-Sanchez, Isabel; Corton, Marta; Almoguera, Berta.
  • Martínez-Granero F; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain.
  • Martínez-Cayuelas E; Department of Pediatrics, Fundación Jiménez Díaz University Hospital, Madrid, Spain.
  • Rodilla C; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain.
  • Núñez-Moreno G; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Rodríguez de Alba M; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain.
  • Blanco-Kelly F; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Romero R; Bioinformatics Unit, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain.
  • Minguez P; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain.
  • Ayuso C; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Lorda-Sanchez I; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain.
  • Corton M; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
  • Almoguera B; Department of Genetics and Genomics, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain.
Clin Genet ; 103(4): 448-452, 2023 04.
Article en En | MEDLINE | ID: mdl-36719180
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Anomalías del Ojo / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article