Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.

Chen-Yu Lee,Ming-Yu Lo,You-Mei Chen,Pei-Hsuan Lin,Chuan-Jen Hsu,Pei-Lung Chen,Chen-Chi Wu,Jacob Shujui Hsu

Molecular genetics & genomic medicine（2022）

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摘要

This study revealed highly phenotypic variability in Taiwanese WS patients and demonstrated that targeted NGS allowed us to clarify the genetic diagnosis and extend the genetic variant spectrum of WS.

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关键词

EDNRB , MITF , PAX3 , SOX10 ,Waardenburg syndrome,next-generation sequencing

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