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Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
Riva, Antonella; Gambadauro, Antonella; Dipasquale, Valeria; Casto, Celeste; Ceravolo, Maria Domenica; Accogli, Andrea; Scala, Marcello; Ceravolo, Giorgia; Iacomino, Michele; Zara, Federico; Striano, Pasquale; Cuppari, Caterina; Di Rosa, Gabriella; Cutrupi, Maria Concetta; Salpietro, Vincenzo; Chimenz, Roberto.
Afiliación
  • Riva A; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Gambadauro A; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Dipasquale V; Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
  • Casto C; Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
  • Ceravolo MD; Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
  • Accogli A; Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
  • Scala M; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Ceravolo G; Department of Paediatrics, Division of Medical Genetics, McGill University, Montreal, QC H3A 2R7, Canada.
  • Iacomino M; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Zara F; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Striano P; Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
  • Cuppari C; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Di Rosa G; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Cutrupi MC; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Salpietro V; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
  • Chimenz R; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Int J Mol Sci ; 22(9)2021 Apr 25.
Article en En | MEDLINE | ID: mdl-33922911
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Coloboma / Microftalmía / Cinesinas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Infant / Male Idioma: En Revista: Int J Mol Sci Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Coloboma / Microftalmía / Cinesinas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Infant / Male Idioma: En Revista: Int J Mol Sci Año: 2021 Tipo del documento: Article País de afiliación: Italia