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

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

Indexed on: 20 Dec '18Published on: 20 Dec '18Published in: Clinical Case Reports


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.