Porencephaly in a fetus and HANAC in her father: Variable expression ofCOL4A1mutation-Reference-Cited by-同舟云学术

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Porencephaly in a fetus and HANAC in her father: Variable expression ofCOL4A1mutation

Published:2014-11-25 Issue:1 Volume:167 Page:156-158
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Takenouchi Toshiki¹²,Ohyagi Masaki³,Torii Chiharu²,Kosaki Rika⁴,Takahashi Takao¹,Kosaki Kenjiro²

Affiliation:

1. Department of Pediatrics; Keio University School of Medicine; Tokyo Japan

2. Center for Medical Genetics; Keio University School of Medicine; Tokyo Japan

3. Department of Internal Medicine; Tokyo Metropolitan Bokutoh Hospital; Tokyo Japan

4. Division of Medical Genetics; National Center for Child Health and Development; Tokyo Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36823/fullpdf

Reference8 articles.

1. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly;Gould;Science,2005

2. Role of COL4A1 in small-vessel disease and hemorrhagic stroke;Gould;N Engl J Med,2006

3. Characterization of alpha1(IV) collagen mutations in Caenorhabditis elegans and the effects of alpha1 and alpha2(IV) mutations on type IV collagen distribution;Gupta;J Cell Biol,1997

4. Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain;Plaisier;Am J Med Genet Part A,2010

Cited by 21 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. COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review;Frontiers in Pediatrics;2024-06-18

2. Ventriculoperitoneal shunt for giant porencephaly: a case report and literature review;Frontiers in Surgery;2024-04-19

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

4. Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders;Pediatric Neurology;2023-10

5. Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study;Brain and Development;2023-08

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