Carolyn C Jackson Lucy Best Lazaro Lorenzo Jean-Laurent Casanova Jochen Wacker Simone Bertz Abbas Agaimy Thomas Harrer
10.1007/s10875-015-0225-6
J Clin Immunol
2016 Jan;36(1):19-27.
ccbe1 hennekam syndrome lymphangiectasia lymphedema
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26686525/
Calcium-Binding Proteins / metabolism Craniofacial Abnormalities / diagnosis Lymphangiectasis, Intestinal / diagnosis Lymphedema / diagnosis Tumor Suppressor Proteins / metabolism
Calcium-Binding Proteins / metabolism Craniofacial Abnormalities / diagnosis Lymphangiectasis, Intestinal / diagnosis Lymphedema / diagnosis Tumor Suppressor Proteins / metabolism Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adult Calcium-Binding Proteins / genetics Consanguinity Craniofacial Abnormalities / genetics DNA Mutational Analysis Female Gene Expression Regulation / genetics Homozygote Humans Lymphangiectasis, Intestinal / genetics Lymphedema / genetics Male Mutation / genetics Pedigree Siblings Tumor Suppressor Proteins / genetics Turkey Young Adult CCBE1 protein, human Calcium-Binding Proteins Tumor Suppressor Proteins Hennekam lymphangiectasia lymphedema syndrome
PMC4984268
26686525
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression
2016