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

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

Abstract 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 WDR...

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Bibliographic Details
Main 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
Format: Article
Language:English
Published: Wiley 2021-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
compound heterozygous frameshift variants
congenital hydrocephalus 3 with brain anomalies
prenatal
WDR81
Online Access:https://doi.org/10.1002/mgg3.1624

Internet

https://doi.org/10.1002/mgg3.1624

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