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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Библиографические подробности
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: 1994
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918288/
https://ncbi.nlm.nih.gov/pubmed/7942851
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