Condition: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
rs121908250
in
CCBE1
gene and
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
PMID 19935664
2009 Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
PMID 19911200
2010 Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.