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Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.
Redwood, A; Douzgou, S; Waller, S; Ramsden, S; Roberts, A; Bonin, H; Lloyd, I C; Ashworth, J; Black, G C M; Clayton-Smith, J.
Afiliación
  • Redwood A; University of Manchester Medical School, Manchester, United Kingdom.
  • Douzgou S; Manchester Centre For Genomic Medicine, St Mary's Hospital, Manchester and University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, United Kingdom.
  • Waller S; Manchester Centre For Genomic Medicine, St Mary's Hospital, Manchester and University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, United Kingdom.
  • Ramsden S; Manchester Centre For Genomic Medicine, St Mary's Hospital, Manchester and University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, United Kingdom.
  • Roberts A; Manchester Centre For Genomic Medicine, St Mary's Hospital, Manchester and University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, United Kingdom.
  • Bonin H; Manchester Centre For Genomic Medicine, St Mary's Hospital, Manchester and University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, United Kingdom.
  • Lloyd IC; Manchester Royal Eye Hospital, Oxford Rd, Manchester and Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, United Kingdom; Department of Clinical and Academic Ophthalmology, Great Ormond Street Hospital, London and UCL Academic Health Sciences Centre, U
  • Ashworth J; Manchester Royal Eye Hospital, Oxford Rd, Manchester and Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, United Kingdom.
  • Black GCM; Manchester Centre For Genomic Medicine, St Mary's Hospital, Manchester and University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, United Kingdom; Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, United Kingdom.
  • Clayton-Smith J; Manchester Centre For Genomic Medicine, St Mary's Hospital, Manchester and University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, United Kingdom; Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, United Kingdom. Electron
Eur J Med Genet ; 63(2): 103658, 2020 Feb.
Article en En | MEDLINE | ID: mdl-31048080
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Catarata / Microftalmía / Proteínas Proto-Oncogénicas / Defectos de los Tabiques Cardíacos Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Catarata / Microftalmía / Proteínas Proto-Oncogénicas / Defectos de los Tabiques Cardíacos Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article