CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis

Clin Genet. 2012 Feb;81(2):191-7. doi: 10.1111/j.1399-0004.2011.01731.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Calcium-Binding Proteins / genetics*
  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics
  • Diagnosis, Differential
  • Female
  • Fetus
  • Genetic Predisposition to Disease
  • Genital Diseases, Male / diagnosis
  • Genital Diseases, Male / genetics
  • Humans
  • Hydrops Fetalis / diagnosis
  • Hydrops Fetalis / genetics*
  • Infant
  • Infant, Newborn
  • Lymphangiectasis, Intestinal / diagnosis
  • Lymphangiectasis, Intestinal / genetics
  • Lymphatic Abnormalities / diagnosis
  • Lymphatic Abnormalities / genetics*
  • Lymphedema / diagnosis
  • Lymphedema / genetics
  • Male
  • Mutation*
  • Tumor Suppressor Proteins / genetics*

Substances

  • CCBE1 protein, human
  • Calcium-Binding Proteins
  • Tumor Suppressor Proteins

Supplementary concepts

  • Hennekam lymphangiectasia lymphedema syndrome