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A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1

✍ Scribed by T.G. Markova; S.P. Shevtsov; L.N. Moskolenko; A.A. Lantsov; E.I. Schwartz


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
11 KB
Volume
13
Category
Article
ISSN
1059-7794

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Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS

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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