Novel nonsense mutation of the endotheli
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Syrris, Petros; Carter, Nicholas D.; Patton, Michael A.
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Article
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1999
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John Wiley and Sons
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English
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Waardenburg syndrome (WS) comprises sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). Mutations i