Rhbdf2
- Genetic deletion of amphiregulin restores the normal skin phenotype in a mouse model of the human skin disease tylosis
Summary: Gain-of-function mutations in RHBDF2 cause tylosis, a skin disease characterized by hyperproliferation of keratinocytes. We generated mice carrying the human tylosis disease mutation p.P189L and show that enhanced amphiregulin secretion underlies tylosis.