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

BACKGROUND: Congenital hydrocephalus‐3 with brain anomalies (HYC3, MIM 617967) is a rare form of congenital hydrocephalus characterized by severe hydrocephalus and cerebellar abnormalities, the onset of the disease occurs in utero even resulting in fetal death. A very limited spectrum of WDR81 patho...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: Su, Jiasun, Lu, Weiliang, Li, Mengting, Zhang, Qiang, Chen, Fei, Yi, Shang, Yang, Qi, Yi, Sheng, Zhou, Xunzhao, Huang, Limei, Shen, Yiping, Luo, Jingsi, Qin, Zailong
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2021
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8123740/
https://ncbi.nlm.nih.gov/pubmed/33724704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1624
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