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Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
Sergouniotis, Panagiotis I; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; Black, Graeme C; Lovell, Simon C; Whitby, David J; Newman, William G; Clayton-Smith, Jill.
Afiliación
  • Sergouniotis PI; 1] Institute of Human Development, University of Manchester, Manchester, UK [2] Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Urquhart JE; 1] Institute of Human Development, University of Manchester, Manchester, UK [2] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Williams SG; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Bhaskar SS; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Black GC; 1] Institute of Human Development, University of Manchester, Manchester, UK [2] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Lovell SC; Department of Computational and Evolutionary Biology, Faculty of Life Sciences, University of Manchester, Manchester, UK.
  • Whitby DJ; North West, Isle of Man and North Wales Cleft Lip and Palate Network, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Newman WG; 1] Institute of Human Development, University of Manchester, Manchester, UK [2] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Clayton-Smith J; 1] Institute of Human Development, University of Manchester, Manchester, UK [2] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
J Hum Genet ; 60(4): 199-202, 2015 Apr.
Article en En | MEDLINE | ID: mdl-25589041
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Insuficiencia Velofaríngea / Sistemas de Lectura / Duplicación de Gen / Factores de Transcripción Otx Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Insuficiencia Velofaríngea / Sistemas de Lectura / Duplicación de Gen / Factores de Transcripción Otx Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido