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

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 we prese...

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Detalles Bibliográficos
Autores principales: Xu, Qiong, Li, Chun-yang, Wang, Yi, Li, Hui-ping, Wu, Bing-bing, Jiang, Yong-hui, Xu, Xiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199733/
https://www.ncbi.nlm.nih.gov/pubmed/30352594
http://dx.doi.org/10.1186/s12920-018-0421-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199733/
https://www.ncbi.nlm.nih.gov/pubmed/30352594
http://dx.doi.org/10.1186/s12920-018-0421-3

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