Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1

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 diagnost...

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Detalles Bibliográficos
Autores principales: Melber, Dora J., Andreasen, Tara S., Mao, Rong, Tvrdik, Tatiana, Miller, Christine E., Moore, Thomas R., Woelkers, Douglas A., Lamale‐Smith, Leah M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293140/
https://www.ncbi.nlm.nih.gov/pubmed/30564329
http://dx.doi.org/10.1002/ccr3.1804

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