Decoding Genetic Disease Through the Skin: Lessons From the <scp>UDN</scp>
Skin features, even subtle ones, can provide powerful diagnostic clues in rare diseases. Integrating focused dermatologic evaluation and tissue-specific testing, particularly for suspected mosaicism, can enhance diagnostic accuracy and shorten the path to answers for patients and families.
Authors
- Kimberly Ezell (ORCID: https://orcid.org/0009-0005-7200-7644)
- Yutaka Furuta (ORCID: https://orcid.org/0009-0001-7278-8242)
- Christopher G. Bunick (ORCID: https://orcid.org/0000-0002-4011-8308)
- Undiagnosed Disease Network
- J. A. Phillips
- Andrew McMinn (ORCID: https://orcid.org/0000-0002-2133-3854)
- Rory J. Tinker (ORCID: https://orcid.org/0000-0001-7093-8844)
- Rizwan Hamid (ORCID: https://orcid.org/0000-0002-2302-1344)
- Athira Sivadas
- Thomas Cassini
- Katelyn Moore
Institutions
- Vanderbilt University (US)
- Yale University (US)
- Mount Sinai Medical Center (US)
- Vanderbilt University Medical Center (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- International Journal of Dermatology
- Published
- 2026-01-07
- DOI
- https://doi.org/10.1111/ijd.70247
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 30.93