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PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
Makay, Prince; Mubungu, Gerrye; Mupuala, Aimée; Bluske, Krista; Brown, Carolyn; Schmidt, Sarah A; Ngole, Mamy; Fuanani, Patrick; Perry, Denise L; Lukusa, Prosper; Devriendt, Koenraad; Taft, Ryan J; Lumaka, Aimé.
Afiliação
  • Makay P; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.
  • Mubungu G; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.
  • Mupuala A; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium.
  • Bluske K; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.
  • Brown C; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.
  • Schmidt SA; Centre for Human Genetics, University Hospital, University of Leuven, Leuven, Belgium.
  • Ngole M; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.
  • Fuanani P; Illumina Inc, San Diego, California, USA.
  • Perry DL; Illumina Inc, San Diego, California, USA.
  • Lukusa P; Illumina Inc, San Diego, California, USA.
  • Devriendt K; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.
  • Taft RJ; Centre for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.
  • Lumaka A; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.
Am J Med Genet A ; 188(9): 2825-2831, 2022 09.
Article em En | MEDLINE | ID: mdl-35670385
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Códon sem Sentido Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Códon sem Sentido Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article