Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Author:

Breedveld G

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 144 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-17

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

3. Monogenic causes of stroke;Genomic and Molecular Cardiovascular Medicine;2024

4. Porencephaly;Congenital Brain Malformations;2024

5. Type IV collagen;Biochemistry of Collagens, Laminins and Elastin;2024

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