Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the <i>ACVRL1</i> Gene-Reference-Cited by-同舟云学术

Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the <i>ACVRL1</i> Gene

Published:2024 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Miki Takayoshi¹,Ishikura Teruyuki¹²,Fujita Naohiro¹,Nakano Tomohito¹,Kimura Hajime³,Sumi-Akamaru Hisae¹,Naka Takashi¹

Affiliation:

1. Department of Neurology, Higashiosaka City Medical Center, Japan

2. Department of Molecular Neuroscience, Graduate School of Medicine, Osaka University, Japan

3. Department of Neurosurgery, Higashiosaka City Medical Center, Japan

Publisher

Japanese Society of Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_3485-24/_pdf

Reference9 articles.

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3. 3. Kritharis A, Al-Samkari H, Kuter DJ. Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective. Haematologica 103: 1433-1443, 2018.

4. 4. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17: 405-424, 2015.

5. 5. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 24: 203-219, 2010.