- Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
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Jang MA, Lee T, Lee J, Cho EH, Ki CS
- KMID: 2363211
- Ann Lab Med.
- 2015 May;35(3):362-365.
- doi: 10.3343/alm.2015.35.3.362
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including... -
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