Waardenburg syndrome. A heterogenic disorder with variable penetrance
Articles > Article · 2004
Authors: Fazıl APAYDIN, M BEREKETOGLU, O TURAN, K HRIBAR, MM MAASSEN, O GUNHAN, HP ZENNER, M PFISTER
HNO, Journal Indexed in SCI Expanded, International, 2004, vol 52, pp 533-537
DOI: 10.1007/s00106-003-0938-3
Summary
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.