RASA-1 somatic “second hit” mutation in capillary malformation-arteriovenous malformation-Reference-Cited by-同舟云学术

RASA-1 somatic “second hit” mutation in capillary malformation-arteriovenous malformation

Published:2018-10-27 Issue:12 Volume:45 Page:1478-1480
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Cai Ren¹²^ORCID,Liu Fatao³⁴,Liu Yun⁵⁶,Chen Hui¹²,Lin Xiaoxi¹²

Affiliation:

1. Department of Plastic and Reconstructive Surgery; Shanghai Ninth Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine; Shanghai China

2. Department of Laser and Aesthetic Medicine; Shanghai Ninth Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine; Shanghai China

3. Department of General Surgery; Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine; Shanghai China

4. Institute of Biliary Tract Disease; Shanghai Jiao Tong University School of Medicine; Shanghai China

5. Institutes of Biomedical Sciences; Fudan University; Shanghai China

6. Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education); Bio-X Institutes; Shanghai Jiao Tong University; Shanghai China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14676/fullpdf

Reference6 articles.

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

2. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation;Revencu;Hum Mutat,2013

3. A novel mutation in RASA1 causes capillary malformation and limb enlargement;Hershkovitz;Arch Dermatol Res,2008

4. Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth;Revencu;Mol Syndromol,2013

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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