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

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

Melber, Dora J; Andreasen, Tara S; Mao, Rong; Tvrdik, Tatiana; Miller, Christine E; Moore, Thomas R; Woelkers, Douglas A; Lamale-Smith, Leah M.

Affiliation

Melber DJ; Department of Obstetrics, Gynecology and Reproductive Sciences University of California San Diego La Jolla California.
Andreasen TS; Division of Genetics Department of Pediatrics University of California San Diego La Jolla California.
Mao R; Department of Pathology University of Utah Salt Lake City Utah.
Tvrdik T; ARUP Laboratories Salt Lake City Utah.
Miller CE; Department of Pathology University of Utah Salt Lake City Utah.
Moore TR; ARUP Laboratories Salt Lake City Utah.
Woelkers DA; ARUP Laboratories Salt Lake City Utah.
Lamale-Smith LM; Division of Maternal-Fetal Medicine Department of Obstetrics, Gynecology, and Reproductive Sciences University of California San Diego La Jolla California.

Clin Case Rep ; 6(12): 2358-2363, 2018 Dec.

Article in En | MEDLINE | ID: mdl-30564329