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The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
Chen, Wei-Liang; Pao, Emily; Owens, James; Glass, Ian; Pritchard, Colin; Shirts, Brain H; Lockwood, Christina; Mirzaa, Ghayda M.
Afiliación
  • Chen WL; School of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA.
  • Pao E; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.
  • Owens J; Department of Neurology, University of Washington, Seattle, Washington 98195, USA.
  • Glass I; Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.
  • Pritchard C; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA.
  • Shirts BH; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA.
  • Lockwood C; Department of Laboratory Medicine, University of Washington, Seattle, Washington 98195, USA.
  • Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.
Cold Spring Harb Mol Case Stud ; 8(3)2022 04.
Article en En | MEDLINE | ID: mdl-35483878
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Megalencefalia / Epilepsia Refractaria / Ácidos Nucleicos Libres de Células Tipo de estudio: Diagnostic_studies Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Megalencefalia / Epilepsia Refractaria / Ácidos Nucleicos Libres de Células Tipo de estudio: Diagnostic_studies Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2022 Tipo del documento: Article