Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telan...
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
About this item
Full title
Author / Creator
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 and McDonald, Jamie
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
EPHB4 variants were recently reported to cause capillary malformation–arteriovenous malformation 2 (CM-AVM2). CM-AVM2 mimics RASA1-related CM-AVM1 and hereditary hemorrhagic telangiectasia (HHT), as clinical features include capillary malformations (CMs), telangiectasia, and arteriovenous malformations (AVMs). Epistaxis, another clinical feature th...
Alternative Titles
Full title
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2229098521
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2229098521
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0443-z
