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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Publicat a:Clin Case Rep
Autors principals: Melber, Dora J., Andreasen, Tara S., Mao, Rong, Tvrdik, Tatiana, Miller, Christine E., Moore, Thomas R., Woelkers, Douglas A., Lamale‐Smith, Leah M.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Case Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6293140/
https://ncbi.nlm.nih.gov/pubmed/30564329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1804
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