A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene.
- Michal Koubek,
- Kristýna Strakošová,
- Juraj Timkovič,
- Dagmar Grečmalová,
- Aneta Orlíková,
- Hana Burčková,
- Hana Wiedermannová,
- Petr Mašek
Ophthalmic Genet 2017 Nov 15:1-4. Epub 2017 Nov 15.
a Clinic of Ophthalmology , University Hospital Ostrava , Czech Republic.
Introduction: Ankyloblepharon filiforme adnatum associated with Hay-Wells syndrome is a rare congenital disease caused by mutations in TP63 gene on the 3q27 chromosome. Here, we report a case of a new-born suffering from this syndrome in whom we detected a mutation c.1709T>C not previously included in the Ensemble database. Read More