De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature-Reference-Cited by-同舟云学术

De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature

Published:2020-04 Issue:4 Volume:63 Page:103825
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Kinoshita Keishiro,Ishizaki Yoshito,Yamamoto Hiroyuki,Sonoda Motoshi,Yonemoto Kousuke,Kira Ryutaro,Sanefuji Masafumi,Ueda Akihiko,Matsui Hirotaka,Ando Yukio,Sakai Yasunari,Ohga Shouichi

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference29 articles.

1. A severe pulmonary complication in a patient with COL4A1-related disorder: a case report;Abe;Eur. J. Med. Genet.,2017

2. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome;Alamowitch;Neurology,2009

3. Prevalence of pathogenic copy number variation in adults with pediatric-onset epilepsy and intellectual disability;Borlot;JAMA Neurol,2017

4. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus;Crow;Nat. Genet.,2006

5. Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34;Cutting;Genomics,1988

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1. Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review;Neurology International;2024-02-01

2. Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology;Nature Reviews Neurology;2023-08-03

3. Main features of COL4A1-COL4A2 related cerebral microangiopathies;Cerebral Circulation - Cognition and Behavior;2022

4. Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing;npj Genomic Medicine;2021-09-16

5. Insights From Genetic Studies of Cerebral Palsy;Frontiers in Neurology;2021-01-21