22q12.3-q13.1 microdeletion including SOX10 causes atypical Waardenburg syndrome.
CONCLUSION: Our results suggest that a deletion of 1.99 megabase (including SOX10) acts as a dominant pathogenic variant on the clinical presentations of this patient with atypical Waardenburg syndrome.
PMID: 32703023 [PubMed - as supplied by publisher]
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Zhang W, Xiao L, Chen B, Xu Y, Yan N Tags: Eur J Ophthalmol Source Type: research
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