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Article

Decoding Genetic Disease Through the Skin: Lessons From the UDN.

International journal of dermatology - 1 Aug 2026

Sivadas Athira, Moore Katelyn, Ezell Kimberly, McMinn Ashley, Furuta Yutaka, Bunick Christopher G, Cassini Thomas, Hamid Rizwan, Phillips John A, Tinker Rory J

Abstract excerpt

BACKGROUND: Skin findings are often among the earliest signs of genetic disease but remain underused in diagnostic evaluation, especially in complex or multisystem cases. OBJECTIVES: We aimed to examine how dermatologic features contribute to genetic diagnoses in patients evaluated through the Undiagnosed Diseases Network (UDN). METHODS: We conducted a retrospective study of 2849 individuals referred to the UDN...

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Identifiers

PMID: 41496737
DOI: 10.1111/ijd.70247
PMCID: PMC13075645

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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