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The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Almoallem, Basamat; Arno, Gavin; De Zaeytijd, Julie; Verdin, Hannah; Balikova, Irina; Casteels, Ingele; de Ravel, Thomy; Hull, Sarah; Suzani, Martina; Destrée, Anne; Peng, Michelle; Williams, Denise; Ainsworth, John R; Webster, Andrew R; Leroy, Bart P; Moore, Anthony T; De Baere, Elfride.
Affiliation
  • Almoallem B; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Arno G; Department of Ophthalmology, King Abdul-Aziz University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
  • De Zaeytijd J; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Verdin H; Department of Ophthalmology, Moorfields Eye Hospital, London, United Kingdom.
  • Balikova I; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Casteels I; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • de Ravel T; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Hull S; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
  • Suzani M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
  • Destrée A; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Peng M; Department of Ophthalmology, Moorfields Eye Hospital, London, United Kingdom.
  • Williams D; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Ainsworth JR; Department of Ophthalmology, Moorfields Eye Hospital, London, United Kingdom.
  • Webster AR; Department of Human Genetics, Institut de Pathologie et de Génétique (IPG), Charleroi, Belgium.
  • Leroy BP; Department of Ophthalmology, University of California, San Francisco, California, United States.
  • Moore AT; Birmingham Women's NHS Foundation Trust, Birmingham, UK.
  • De Baere E; Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Sci Rep ; 10(1): 1289, 2020 Jan 28.
Article in En | MEDLINE | ID: mdl-31992737
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Microphthalmos / Alleles / Serine Proteases / DNA Copy Number Variations / Membrane Proteins / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Sci Rep Year: 2020 Document type: Article Affiliation country: Belgium
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Microphthalmos / Alleles / Serine Proteases / DNA Copy Number Variations / Membrane Proteins / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Sci Rep Year: 2020 Document type: Article Affiliation country: Belgium