Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome.

Faranak Roudbari, Amir-Reza Dallal Amandi,Mortaza Bonyadi,Leyla Sadeghi,Neda Jabbarpour

Molecular syndromology（2023）

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摘要

Identification of a novel de novo pathogenic variant, NC_000022.11 (NM_006941):c.428+1G>T, in the second intron of the gene with autosomal dominant inheritance pattern.

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