Literature DB >> 28961333

Reply to "an extremely severe phenotype due to WDR81 nonsense mutations".

Ranad Shaheen1, Fowzan S Alkuraya1,2,3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28961333     DOI： 10.1002/ana.25056

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


× No keyword cloud information.
  1 in total

1.  Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Authors:  Jiasun Su; Weiliang Lu; Mengting Li; Qiang Zhang; Fei Chen; Shang Yi; Qi Yang; Sheng Yi; Xunzhao Zhou; Limei Huang; Yiping Shen; Jingsi Luo; Zailong Qin
Journal:  Mol Genet Genomic Med       Date:  2021-03-16       Impact factor: 2.183
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.