Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).

@article{Morell1997ApparentDI,
  title={Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA).},
  author={R. Morell and R. Spritz and L. Ho and J. Pierpont and W. Guo and T. Friedman and J. Asher},
  journal={Human molecular genetics},
  year={1997},
  volume={6 5},
  pages={
          659-64
        }
}
  • R. Morell, R. Spritz, +4 authors J. Asher
  • Published 1997
  • Biology, Medicine
  • Human molecular genetics
  • Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf population. It is characterized by deafness in association with pigmentary anomalies and various defects of neural crest-derived tissues. At least four types are recognized (WS1, WS2, WS3 and WS4) on the basis of clinical and genetic criteria. Two previously described families seemed to delineate a new subtype characterized by WS2 in conjunction with ocular albinism (OA… CONTINUE READING
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