Two rare PROX1 variants in patients with lymphedema
MOLECULAR GENETICS & GENOMIC MEDICINE, vol.8, no.10, 2020 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 8 Issue: 10
- Publication Date: 2020
- Doi Number: 10.1002/mgg3.1424
- Journal Name: MOLECULAR GENETICS & GENOMIC MEDICINE
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, EMBASE, MEDLINE, Directory of Open Access Journals
- Keywords: genetic diagnosis, lymphedema, next-generation sequencing (NGS), PROX1
- Erciyes University Affiliated: Yes
Abstract
Background: The PROX1 gene is specifically expressed in a subpopulation of endothelial cells that, by budding and sprouting, give rise to the lymphatic system. It also plays a critical role in neurogenesis and during development of many organs, such as the eye lens, liver, and pancreas.