Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review-Reference-Cited by-同舟云学术

Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review

Published:2021-10-08 Issue:6 Volume:22 Page:
ISSN:1792-0981
Container-title:Experimental and Therapeutic Medicine
language:
Short-container-title:Exp Ther Med

Author:

Wang Rongyue¹,Chen Hua¹,Wang Xiaona¹,Huang Shiyuan²,Xie Ailan¹,Wu Xinmei³

Affiliation:

1. Department of Obstetrics and Gynecology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China

2. Department of Rehabilitation, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China

3. Department of Clinical Laboratory, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Immunology and Microbiology (miscellaneous),General Medicine

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1. PIH1D3-knockout rats exhibit full ciliopathy features and dysfunctional pre-assembly and loading of dynein arms in motile cilia;Frontiers in Cell and Developmental Biology;2023-10-12

2. Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM;Turkish Archives of Pediatrics;2022-09-02

3. Adducted thumb may not be mandatory for prenatal diagnosis of X-linked hydrocephalus in early second trimester;Taiwanese Journal of Obstetrics and Gynecology;2022-03

4. Molecular Mechanisms and Risk Factors for the Pathogenesis of Hydrocephalus;Frontiers in Genetics;2022-01-03