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

• Main Authors: Qiong Xu (Author), Chun-yang Li (Author), Yi Wang (Author), Hui-ping Li (Author), Bing-bing Wu (Author), Yong-hui Jiang (Author), Xiu Xu (Author)
• Format: Book
• Published: BMC, 2018-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...