Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing

Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1–4, and these are characterized by heterochromia iridis, white forelock, prominent nasal root, dystopia canthorum, hypertrichosis o...

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Bibliographic Details
Main Authors: Jie-Yuan Jin, Lei Zeng, Bing-Bing Guo, Yi Dong, Ju-Yu Tang, Rong Xiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Genetics
Subjects:
PAX3
Waardenburg syndrome
third generation sequencing
structural variants
deletion
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.705973/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.705973/full

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