title: CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.
authors.forename: F C
authors.initials: FC
authors.lastname: Connell
authors.forename: K
authors.initials: K
authors.lastname: Kalidas
authors.forename: P
authors.initials: P
authors.lastname: Ostergaard
authors.forename: G
authors.initials: G
authors.lastname: Brice
authors.forename: V
authors.initials: V
authors.lastname: Murday
authors.forename: P S
authors.initials: PS
authors.lastname: Mortimer
authors.forename: I
authors.initials: I
authors.lastname: Jeffrey
authors.forename: S
authors.initials: S
authors.lastname: Jeffery
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
mesh_terms: D002135:Calcium-Binding Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005333:Fetus; D020022:Genetic Predisposition to Disease; D005832:Genital Diseases, Male / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008201:Lymphangiectasis, Intestinal / Q000175:diagnosis / Q000235:genetics; D044148:Lymphatic Abnormalities / Q000175:diagnosis / Q000235:genetics*; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C546964:CCBE1 protein, human; D002135:Calcium-Binding Proteins; D025521:Tumor Suppressor Proteins