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A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome.
MacDonald, Stella K; Marshall, Aren E; Lemire, Gabrielle; Hartley, Taila; Kernohan, Kristin D; Boycott, Kym M.
Afiliación
  • MacDonald SK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Marshall AE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Boycott KM; Newborn Screening Ontario, Ottawa, Ontario, Canada.
Am J Med Genet A ; 188(8): 2493-2496, 2022 08.
Article en En | MEDLINE | ID: mdl-35607970
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Deformidades Congénitas de la Mano / Discapacidad Intelectual / Micrognatismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Deformidades Congénitas de la Mano / Discapacidad Intelectual / Micrognatismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article