Associated Papers
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.
Kapoor S et al.
Molecular Vision, 2012
Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.
Shamseldin HE et al.
American Journal of Medical Genetics. Part A, 2010
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