Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
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DOI: 10.1007/s00439-021-02301-3
Abstract: Waardenburg syndrome (WS) is a phenotypically and genetically heterogeneous disorder characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and genetic features in 90 Chinese WS probands. Disease-causing variants were detected in 55… read more here.
Keywords: genotype phenotype; chinese probands; phenotype relationships; waardenburg syndrome ... See more keywords