- The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations
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Lee ES, Ko JM, Moon JS
- KMID: 2401812
- J Genet Med.
- 2017 Dec;14(2):86-89.
- doi: 10.5734/JGM.2017.14.2.86
Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS... -
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