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Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.
Melber, Dora J; Andreasen, Tara S; Mao, Rong; Tvrdik, Tatiana; Miller, Christine E; Moore, Thomas R; Woelkers, Douglas A; Lamale-Smith, Leah M.
Afiliación
  • Melber DJ; Department of Obstetrics, Gynecology and Reproductive Sciences University of California San Diego La Jolla California.
  • Andreasen TS; Division of Genetics Department of Pediatrics University of California San Diego La Jolla California.
  • Mao R; Department of Pathology University of Utah Salt Lake City Utah.
  • Tvrdik T; ARUP Laboratories Salt Lake City Utah.
  • Miller CE; Department of Pathology University of Utah Salt Lake City Utah.
  • Moore TR; ARUP Laboratories Salt Lake City Utah.
  • Woelkers DA; ARUP Laboratories Salt Lake City Utah.
  • Lamale-Smith LM; Division of Maternal-Fetal Medicine Department of Obstetrics, Gynecology, and Reproductive Sciences University of California San Diego La Jolla California.
Clin Case Rep ; 6(12): 2358-2363, 2018 Dec.
Article en En | MEDLINE | ID: mdl-30564329
Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1. WES is a useful approach for diagnosing rare single-gene conditions with nonspecific phenotypes and should be considered early in the diagnostic process of investigating fetal abnormalities.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2018 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2018 Tipo del documento: Article Pais de publicación: Reino Unido