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Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3‐q13.1 microdeletion involving SOX10 |
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| Authors: | Brezo Jelena Lam Christina Vilain Eric Quintero‐Rivera Fabiola |
| Affiliation: | 1. Department of Pathology & Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, UCLA, Los Angeles, California;2. Department of Pediatrics, David Geffen School of Medicine, University of California Los Angeles, UCLA, Los Angeles, California;3. Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, UCLA, Los Angeles, California;4. UCLA Clinical Genomics Center, Los Angeles, California |
| Abstract: | |
| Keywords: | Waardenburg syndrome contiguous gene deletion 22q12.3‐q13.1deletion SOX10 cytogenetic abnormality hearing loss review variant |