Lacrimo‐auriculo‐dento‐digital syndrome: A novel mutation in a Korean family and review of literature
Abstract Background Lacrimo‐auriculo‐dento‐digital (LADD) syndrome is a rare autosomal dominant disorder caused by mutations in one of the three genes: fibroblast growth factor receptor 2 (FGFR2), FGFR3, or FGF10. Affected patients have hypoplasia/aplasia of lacrimal ducts/glands, hypoplasia/aplasia...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Jezik: | English |
| Izdano: |
Wiley
2020-10-01
|
| Serija: | Molecular Genetics & Genomic Medicine |
| Teme: | |
| Online dostop: | https://doi.org/10.1002/mgg3.1412 |