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Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.
Iarossi, Giancarlo; Coppè, Andrea Maria; Passarelli, Chiara; Maltese, Paolo Enrico; Sinibaldi, Lorenzo; Cappelli, Alessandro; Cetola, Sarah; Novelli, Antonio; Buzzonetti, Luca.
Affiliation
  • Iarossi G; Department of Ophthalmology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.
  • Coppè AM; Department of Ophthalmology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.
  • Passarelli C; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Maltese PE; MAGI'S Lab s.r.l., 38068 Rovereto, Italy.
  • Sinibaldi L; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Cappelli A; Rare Disease and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Cetola S; Department of Ophthalmology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.
  • Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
  • Buzzonetti L; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Int J Mol Sci ; 22(16)2021 Aug 10.
Article in En | MEDLINE | ID: mdl-34445325
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Glycoproteins / Color Vision Defects / Rod Opsins / Eye Proteins / Fovea Centralis Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Int J Mol Sci Year: 2021 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Glycoproteins / Color Vision Defects / Rod Opsins / Eye Proteins / Fovea Centralis Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Int J Mol Sci Year: 2021 Document type: Article Affiliation country: Country of publication: