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• W2898407859 abstract "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." @default.
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• W2898407859 date "2018-10-24" @default.
• W2898407859 modified "2023-09-25" @default.
• W2898407859 title "Novel mutation in<i><scp>CCBE</scp>1</i>as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1" @default.
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• W2898407859 doi "https://doi.org/10.1002/ccr3.1804" @default.
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