Waardenburg syndrome. A heterogenic disorder with variable penetrance
Makaleler > Tam Makale · 2004
Yazarlar: Fazıl APAYDIN, M BEREKETOGLU, O TURAN, K HRIBAR, MM MAASSEN, O GUNHAN, HP ZENNER, M PFISTER
HNO, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2004, cilt 52, ss 533-537
DOI: 10.1007/s00106-003-0938-3
Özet
Background. Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary anomalies of the skin, hairs, eyes and various defects of other neural crest derived tissues. It accounts for over 2% of congenital hearing impairment. At least four types are recognized on the basis of clinical and genetic criteria.