L1CAM mutations in three fetuses diagnosed by medical exome sequencing-Reference-Cited by-同舟云学术

L1CAM mutations in three fetuses diagnosed by medical exome sequencing

Published:2020-05 Issue:3 Volume:59 Page:451-455
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Li Ying-Ting,Chen Jing-Si,Jian Wei,He Yi-Duo,Li Nan,Xie Yi-Nong,Wang Jing,Zhang Victor Wei,Huang Wei-Ran,Jiang Fu-man,Ye Xiao-Qing,Chen Dun-Jin,Chen Min

Funder

National Natural Science Foundation of China

National Key Research and Development Program of China

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology

Reference15 articles.

1. A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report;Otter;Clin Case Rep,2017

2. [X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome];Munoz;Rev Neurol,2016

3. Clinical and genetic features of L1 syndrome patients: definition of two novel mutations;Isik;Clin Neurol Neurosurg,2018

4. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene;Jouet;Nat Genet,1994

5. Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation;Itoh;J Neurosci Res,2011

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