Locus Heterogeneity for Waardenburg Syndrome is Predictive of Clinical Subtypes

Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS i...

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Hlavní autoři: Farrer, Lindsay A., Arnos, Kathleen S., Asher, James H., Baldwin, Clinton T., Diehl, Scott R., Friedman, Thomas B., Greenberg, Jacquie, Grundfast, Kenneth M., Hoth, Christopher, Lalwani, Anil K., Landa, Barbara, Leverton, Kate, Milunsky, Aubrey, Morell, Robert, Nance, Walter E., Newton, Valerie, Ramesar, Rajkumar, Rao, Valluri S., Reynolds, Jennifer E., Agustin, Theresa B. San, Wilcox, Edward R., Winship, Ingrid, Read, Andrew P.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918288/
https://ncbi.nlm.nih.gov/pubmed/7942851
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