A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report-Reference-Cited by-同舟云学术

A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

Published:2017-06-15 Issue:8 Volume:5 Page:1213-1217
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Otter Maarten¹²^ORCID,Wevers Marijke³⁴,Pisters Marline¹,Pfundt Rolph⁵,Vos Yvonne⁶,Nievelstein Rutger Jan⁷,Stumpel Constance⁸

Affiliation:

1. Department of Community Mental Health in Learning Disabilities; Trajectum; Zutphen The Netherlands

2. Forensic Psychiatric Department; STEVIG/Dichterbij; Oostrum The Netherlands

3. Department of Clinical Genetics; University Medical Center, Utrecht; Utrecht The Netherlands

4. Department of Clinical Genetics; Radboud University Medical Center; Nijmegen The Netherlands

5. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

6. Department of Genetics; University Medical Center, Groningen; Groningen The Netherlands

7. Department of Radiology and Nuclear Medicine; University Medical Center, Utrecht/Wilhelmina Children's Hospital; Utrecht The Netherlands

8. Department of Clinical Genetics and School for Oncology and Developmental Biology; Maastricht University Medical Center; Maastricht The Netherlands

Funder

Genome Canada

Canadian Institutes of Health Research

Publisher

Wiley

Subject

General Medicine

Reference25 articles.

1. Expanding the phenotypic spectrum of L1CAM-associated disease;Basel-Vanagaite;Clin. Genet.,2006

2. Neural cell recognition molecule L1: relating biological complexity to human disease mutations;Kenwrick;Hum. Mol. Genet.,2000

3. Stumpel , C. Y. J. Vos L1 Syndrome 2004 R. A. Pagon M. P. Adam H. H. Ardinger University of Washington, Seattle Seattle (WA)

4. Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities;De Angelis;EMBO J.,1999

5. Structure and function of the ependymal barrier and diseases associated with ependyma disruption;Jimenez;Tissue Barriers.,2014

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3. Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports;Molecular Genetics & Genomic Medicine;2022-07-05

4. L1CAM variants cause two distinct imaging phenotypes on fetal MRI;Annals of Clinical and Translational Neurology;2021-09-12

5. Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant;Clinical Case Reports;2021-02-04