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An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia C; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel J; Bitner-Glindzicz, Maria.
Afiliação
  • Le Quesne Stabej P; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • James C; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • Ocaka L; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • Tekman M; Division of Medicine, UCL, London, UK.
  • Grunewald S; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Clement E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Stanescu HC; Division of Medicine, UCL, London, UK.
  • Kleta R; Division of Medicine, UCL, London, UK.
  • Morrogh D; North East Thames Regional Genetics Laboratory, London, UK.
  • Calder A; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Williams HJ; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • Bitner-Glindzicz M; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. maria.bitner@ucl.ac.uk.
Orphanet J Rare Dis ; 12(1): 24, 2017 02 07.
Article em En | MEDLINE | ID: mdl-28173822
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genômica / Doenças Raras / Perda Auditiva Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Child, preschool / Humans Idioma: En Revista: Orphanet J Rare Dis Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genômica / Doenças Raras / Perda Auditiva Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Child, preschool / Humans Idioma: En Revista: Orphanet J Rare Dis Ano de publicação: 2017 Tipo de documento: Article