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OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.
Arruti, Natalia; Rodríguez-Solana, Patricia; Nieves-Moreno, María; Guerrero-Carretero, Marta; Del Pozo, Ángela; Montaño, Victoria E F; Santos-Simarro, Fernando; Rikeros-Orozco, Emi; Delgado-Mora, Luna; Vallespín, Elena; Noval, Susana.
  • Arruti N; Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Rodríguez-Solana P; European Reference Network on Eye Diseases (ERN-EYE), La Paz University Hospital, 28046 Madrid, Spain.
  • Nieves-Moreno M; Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Guerrero-Carretero M; Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Del Pozo Á; European Reference Network on Eye Diseases (ERN-EYE), La Paz University Hospital, 28046 Madrid, Spain.
  • Montaño VEF; Department of Pediatric Ophthalmology, IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Santos-Simarro F; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.
  • Rikeros-Orozco E; Clinical Bioinformatics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Delgado-Mora L; Molecular Ophthalmology Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.
  • Vallespín E; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.
  • Noval S; Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.
Curr Issues Mol Biol ; 45(1): 465-478, 2023 Jan 05.
Article en En | MEDLINE | ID: mdl-36661516

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Año: 2023 Tipo del documento: Article