Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference23 articles.
1. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4;Bondurand;Am J Hum Genet,2007
2. A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenberg syndrome and Down syndrome;Broadman;J Med Genet,2001
3. Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature;Brown;Am J Med Genet,1993
4. Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors;Dahlén;Int J Cancer,2003
5. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome);Edery;Nat Genet,1996
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