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Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.
- J. A. Couto, A. Y. Huang, +5 authors A. Greene
- Biology, Medicine
- American journal of human genetics
- 2 March 2017
Arteriovenous malformation (AVM) is a fast-flow, congenital vascular anomaly that may arise anywhere in the body. AVMs typically progress, causing destruction of surrounding tissue and, sometimes,… Expand
Vascular Anomalies: From a Clinicohistologic to a Genetic Framework
Background: Vascular anomalies currently are classified according to their clinical and histological characteristics. Recent advances in molecular genetics have enabled the identification of somatic… Expand
Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma
Importance Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma… Expand
Diagnosis and Staging of Lymphedema.
Lymphedema often is confused with other causes of extremity edema and enlargement. Understanding the risk factors and physical examination signs of lymphedema can enable the health care practitioner… Expand
A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth
BackgroundCapillary malformation is a cutaneous vascular anomaly that is present at birth, darkens over time, and can cause overgrowth of tissues beneath the stain. The lesion is caused by a somatic… Expand
Abstract 135: A Somatic GNA11 Mutation is Associated with Extremity Capillary Malformation and Overgrowth
- J. A. Couto, U. Ayturk, +8 authors A. Greene
- Plastic and Reconstructive Surgery Global Open
- 1 April 2017
135: A Somatic GNA11 Mutation is Associated with Extremity Capillary Malformation and Overgrowth The Harvard community has made this article openly available. Please share how this access benefits… Expand
Congenital Vascular Tumors.
Vascular tumors are benign neoplasms, which result from proliferating endothelial cells. These lesions present during infancy or childhood, may affect any location, and exhibit postnatal growth.… Expand
Somatic mutations in intracranial arteriovenous malformations
Background Intracranial arteriovenous malformation (AVM) is a common cause of primary intracerebral hemorrhage in young adults. Lesions typically are sporadic and contain somatic mutations in KRAS or… Expand
Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations
The term “intramuscular hemangioma capillary type” (IHCT) refers to a fast-flow vascular lesion that is classified as a tumor, although its phenotype overlaps with arteriovenous malformation (AVM).… Expand
Primary Lymphedema of the Upper Extremities: Clinical and Lymphoscintigraphic Features in 23 Patients.
BACKGROUND Primary idiopathic lymphedema is an uncommon condition that typically affects the lower extremities. Patients have a malformed lymphatic system that causes subcutaneous fluid and adipose… Expand