Publications by authors named "Nicholoas Craddock"
Article Synopsis
- Darier disease (DD) is a rare skin disorder inherited in an autosomal dominant manner, linked to mutations in the ATP2A2 gene, which is involved in both skin and brain function.
- Researchers screened 95 unrelated DD patients, discovering 66 potentially pathogenic mutations, out of which 45 are considered novel.
- The findings indicate a diverse range of mutations in ATP2A2, suggesting they may not be limited to specific families, which enhances our understanding of how DD develops.
