Associated Papers
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.
Melber DJ et al.
Clinical Case Reports, 2018
CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
Viveiros A et al.
Hepatology (baltimore, Md.), 2017
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.
Crawford J et al.
American Journal of Medical Genetics. Part A, 2016
CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.
Connell FC et al.
Clinical Genetics, 2012
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