Article
[Application of next generation sequencing in 3 Waardenburg syndrome].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Oct 2021
Xu Bin, Dai Jiren, Bi Jing, Fu Yong
Abstract excerpt
Objective:To test the gene sequence of 3 patients with Waardenburg syndrome(WS) using the next generation sequencing technology in order to explore the possible mechanism of molecular genetics. Methods:Medical histories of the family members were collected. Physical examination, audiological evaluation and CT examination were performed. Peripheral blood was collected and DNA was extracted. The exon region of 159...
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