Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature

Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature

Abstract Background Verheij syndrome is a rare microdeletion syndrome of chromosome 8q24.3 that harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss of function mutations in PUF60 have been found in children with clinical features significantly overlapping with Verheij. Case presentation Here w...

Full description

Bibliographic Details
Main Authors: Qiong Xu, Chun-yang Li, Yi Wang, Hui-ping Li, Bing-bing Wu, Yong-hui Jiang, Xiu Xu
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Medical Genomics
Subjects:
PUF60
Verheij syndrome
Intellectual disability
Chinese Han patient
Online Access:http://link.springer.com/article/10.1186/s12920-018-0421-3

Internet

http://link.springer.com/article/10.1186/s12920-018-0421-3

Similar Items