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Article

Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

Orphanet journal of rare diseases - 6 Jun 2024

Sun Fengying, Xiao Minmin, Ji Dong, Zheng Feng, Shi Tieliu

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is a rare genetic disorder mainly characterized by hearing loss and pigmentary abnormalities. Currently, seven causative genes have been identified for WS, but clinical genetic testing results show that 38.9% of WS patients remain molecularly unexplained. In this study, we performed multi-data integration analysis through protein-protein interaction and phenotype-similarity...

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Source

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Identifiers

PMID: 38844942
DOI: 10.1186/s13023-024-03220-y
PMCID: PMC11155130

Genes

SOX10
PAX3
MITF
CHD7
KIT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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