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

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.

SUBMITTER: Melber DJ 

PROVIDER: S-EPMC6293140 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Novel mutation in <i>CCBE 1</i> as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.

Melber Dora J DJ   Andreasen Tara S TS   Mao Rong R   Tvrdik Tatiana T   Miller Christine E CE   Moore Thomas R TR   Woelkers Douglas A DA   Lamale-Smith Leah M LM  

Clinical case reports 20181024 12

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. ...[more]

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