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

Chen-Yu LeeMing-Yu LoYou-Mei ChenPei-Hsuan LinChuan-Jen HsuPei-Lung ChenChen-Chi WuJacob Shu-Jui Hsu

Published in: Molecular genetics & genomic medicine (2022)

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.

Keyphrases

copy number
genome wide
end stage renal disease
chronic kidney disease
newly diagnosed
stem cells
prognostic factors
transcription factor
bioinformatics analysis
gene expression
dna methylation
single cell
case report
genome wide identification
circulating tumor
cell free