Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?-Reference-Cited by-同舟云学术

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Published:2019-09 Issue:9 Volume:21 Page:2007-2014
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Wooderchak-Donahue Whitney L.,Akay Gulsen,Whitehead Kevin,Briggs Eric,Stevenson David A.,O’Fallon Brendan,Velinder Matthew,Farrell Andrew,Shen Wei,Bedoukian Emma,Skrabann Cara M.,Antaya Richard J.,Henderson Kate,Pollak Jeffrey,Treat James,Day Ronald,Jacher Joseph E.,Hannibal Mark,Bontempo Kelly,Marth Gabor,Bayrak-Toydemir Pinar,McDonald Jamie

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-019-0443-z.pdf

Reference24 articles.

1. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations;Eerola;Am J Hum Genet,2003

2. Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling;Amyere;Circulation,2017

3. Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation;Vivanti;Brain,2018

4. RASA1: variable phenotype with capillary and arteriovenous malformations;Boon;Curr Opin Genet Dev,2005

5. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations;Revencu;Hum Mutat,2008

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