A novel nonsense mutation in the L1CAM gene responsible for X‐linked congenital hydrocephalus-Reference-Cited by-同舟云学术

A novel nonsense mutation in the L1CAM gene responsible for X‐linked congenital hydrocephalus

Published:2020-03-30 Issue:7 Volume:22 Page:
ISSN:1099-498X
Container-title:The Journal of Gene Medicine
language:en
Short-container-title:J Gene Med

Author:

Guo Dewei¹²^ORCID,Shi Yuting³,Jian Wenyan¹²,Fu Yimei¹²⁴,Yang Hui¹²⁴,Guo Manhui¹²⁴,Yong Wenjing¹²,Chen Gang¹²,Deng Huan¹²,Qin Yan⁵,Liao Weihua⁵,Yao Ruojin¹²

Affiliation:

1. Department of Gynaecology and Obstetrics, Xiangya HospitalCentral South University Changsha Hunan China

2. Fetal Medical Center, Xiangya HospitalCentral South University Changsha Hunan China

3. Department of Neurology, Xiangya HospitalCentral South University Changsha Hunan China

4. Department of Obstetrical & Gynecological Ultrasound, Xiangya HospitalCentral South University Changsha Hunan China

5. Department of Medical Imaging, Xiangya HospitalCentral South University Changsha Hunan China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgm.3180

Reference35 articles.

1. Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus

2. Congenital Hydrocephalus

3. Genetics of human hydrocephalus

4. AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

5. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus

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