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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Detaylı Bibliyografya
Yayımlandı:Clin Case Rep
Asıl Yazarlar: Melber, Dora J., Andreasen, Tara S., Mao, Rong, Tvrdik, Tatiana, Miller, Christine E., Moore, Thomas R., Woelkers, Douglas A., Lamale‐Smith, Leah M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2018
Konular:
Case Reports
Online Erişim: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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