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Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Cheong, Sek-Shir; Hentschel, Lisa; Davidson, Alice E; Gerrelli, Dianne; Davie, Rebecca; Rizzo, Roberta; Pontikos, Nikolas; Plagnol, Vincent; Moore, Anthony T; Sowden, Jane C; Michaelides, Michel; Snead, Martin; Tuft, Stephen J; Hardcastle, Alison J.
Afiliación
  • Cheong SS; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Hentschel L; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
  • Davidson AE; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Gerrelli D; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
  • Davie R; Vitreoretinal Research Group, Cambridge University National Health Service Foundation Trust, Cambridge CB2 0QQ, UK.
  • Rizzo R; Moorfields Eye Hospital, London EC1V 2PD, UK.
  • Pontikos N; Genetics Institute, University College London, London WC1E 6BT, UK.
  • Plagnol V; Genetics Institute, University College London, London WC1E 6BT, UK.
  • Moore AT; Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK; Ophthalmology Department, School of Medicine, University of California, San Francisco, San Francisco, CA 94143, USA.
  • Sowden JC; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
  • Michaelides M; Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Genetics Institute, University College London, London WC1E 6BT, UK.
  • Snead M; Vitreoretinal Research Group, Cambridge University National Health Service Foundation Trust, Cambridge CB2 0QQ, UK.
  • Tuft SJ; Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK.
  • Hardcastle AJ; Institute of Ophthalmology, University College London, London EC1V 9EL, UK. Electronic address: a.hardcastle@ucl.ac.uk.
Am J Hum Genet ; 99(6): 1338-1352, 2016 Dec 01.
Article en En | MEDLINE | ID: mdl-27839872
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Alfa-Macroglobulinas / Complemento C3 / Inhibidor de Tripsina Pancreática de Kazal / Anomalías del Ojo / Genes Recesivos / Segmento Anterior del Ojo / Mutación Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Alfa-Macroglobulinas / Complemento C3 / Inhibidor de Tripsina Pancreática de Kazal / Anomalías del Ojo / Genes Recesivos / Segmento Anterior del Ojo / Mutación Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido