Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome
oleh: Helen R. Davies, Kirsty Hodgson, Edward Schwalbe, Jonathan Coxhead, Naomi Sinclair, Xueqing Zou, Simon Cockell, Akhtar Husain, Serena Nik-Zainal, Neil Rajan
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2019-10-01 |
Deskripsi
CYLD cutaneous syndrome (also known as Brooke-Spiegler syndrome) is characterised by germline mutations in the tumor suppressor CYLD. Here, the authors highlight recurrent mutations in DNMT3A and BCOR, indicating a role for epigenetic dysregulation in this rare genetic skin disease.