BrouillardP, et al.Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3. Hum Mol Genet, 2017; 26:4095–4104.
2.
AldersM, et al.Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations. Mol Syndromol, 2013; 4:107–113.
3.
AldersM, et al.Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet, 2014; 133:1161–1167.
4.
BonetF, et al.CCBE1 in cardiac development and disease. Front Genet, 2022; 13:836694.