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Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Panagiotou, Evangelia S; Fernandez-Fuentes, Narcis; Farraj, Layal Abi; McKibbin, Martin; Elçioglu, Nursel H; Jafri, Hussain; Cerman, Eren; Parry, David A; Logan, Clare V; Johnson, Colin A; Inglehearn, Chris F; Toomes, Carmel; Ali, Manir.
Afiliación
  • Panagiotou ES; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
  • Fernandez-Fuentes N; Institute of Biological, Environmental & Rural Sciences, Aberystwyth University, United Kingdom.
  • Farraj LA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
  • McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
  • Elçioglu NH; Eye Clinic, St. James's University Hospital, Leeds, United Kingdom.
  • Jafri H; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
  • Cerman E; Eastern Mediterrean University of Medical School, Cyprus, Turkey.
  • Parry DA; Fatima Jinnah Medical University, Lahore, Pakistan.
  • Logan CV; Department of Ophthalmology, Marmara University Medical School, Istanbul, Turkey.
  • Johnson CA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
  • Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
  • Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
  • Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.
Mol Vis ; 28: 57-69, 2022.
Article en En | MEDLINE | ID: mdl-35693420
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catarata / Coloboma / Anomalías del Ojo / Microftalmía / Enfermedades de la Córnea Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Catarata / Coloboma / Anomalías del Ojo / Microftalmía / Enfermedades de la Córnea Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido