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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Pubblicato in:Clin Case Rep
Autori principali: Melber, Dora J., Andreasen, Tara S., Mao, Rong, Tvrdik, Tatiana, Miller, Christine E., Moore, Thomas R., Woelkers, Douglas A., Lamale‐Smith, Leah M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2018
Soggetti:
Case Reports
Accesso online: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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