Perrault syndrome: Clinical report and retrospective analysis.

Zhaoyu Pan Hongen XuYongan TianDanhua LiuHuanfei LiuRuijun LiQian DouBin ZuoRongqun ZhaiWenxue TangWei Lu

Published in: Molecular genetics & genomic medicine (2020)

This study expanded the mutation spectrum of LARS2 and is the first report of PRLTS4 in a Chinese family. Genetic testing plays an important role in early diagnosis of syndromic deafness and clinical genetic evaluation is essential to guide prevention.

Keyphrases

intellectual disability
gene expression
copy number
clinical evaluation