EPHB4Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report-Reference-Cited by-同舟云学术

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EPHB4Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report

Published:2017-07-21 Issue:5 Volume:34 Page:e227-e230
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Yu JiaDe¹^ORCID,Streicher Jenna L.¹²,Medne Livija³,Krantz Ian D.²⁴,Yan Albert C.¹²

Affiliation:

1. Department of Pediatrics; Section of Dermatology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Perelman School of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

3. Department of Pediatrics and Neurology; Division of Child Neurology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

4. Division of Human Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.13208/fullpdf

Reference13 articles.

1. A prospective study of cutaneous findings in newborns in the United States: correlation with race, ethnicity, and gestational status using updated classification and nomenclature;Kanada;J Pediatr,2012

2. Vascular anomalies classification: recommendations from the International Society for the Study of Vascular Anomalies;Wassef;Pediatrics,2015

3. Capillary malformation-arteriovenous malformation: a clinical review of 45 patients;Larralde;Int J Dermatol,2014

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

5. Vascular system defects and neuronal apoptosis in mice lacking Ras GTPase-activating protein;Henkemeyer;Nature,1995

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1. Eph-ephrin signaling couples endothelial cell sorting and arterial specification;Nature Communications;2024-04-03

2. SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology;Clinical Genetics;2023-12-27

3. Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review;Pulmonary Circulation;2023-10

4. Temporospatial inhibition of Erk signaling is required for lymphatic valve formation;Signal Transduction and Targeted Therapy;2023-09-11

5. Genotype–Phenotype and Genotype–Outcome Analysis of Capillary Malformation–Arteriovenous Malformation;Journal of Vascular Anomalies;2023-07-14

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