Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations
| العنوان: | Arteriovenous malformation phenotype resembling congenital hemangioma contains |
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| المؤلفون: | Dennis J. Konczyk, Anna M. McGuire, Steven J. Fishman, Patrick Smits, Christopher L. Sudduth, Alyaa Al-Ibraheemi, Arin K. Greene |
| المصدر: | Clin Genet |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Somatic cell, 030105 genetics & heredity, medicine.disease_cause, Article, Congenital Abnormalities, Arteriovenous Malformations, Proto-Oncogene Proteins p21(ras), Hemangioma, 03 medical and health sciences, Germline mutation, Genetics, medicine, Humans, Genetic Predisposition to Disease, Congenital Hemangioma, Genetics (clinical), business.industry, Arteriovenous malformation, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Histopathology, KRAS, business |
| الوصف: | Extracranial arteriovenous malformation (AVM) is most commonly caused by a somatic mutation in MAP2K1. We report two patients with vascular anomalies that had an unclear clinical diagnosis most consistent with either an AVM or congenital hemangioma. Lesions were cutaneous, reddish-purple with telangiectasias, present at birth, and had defined borders. Histopathology indicated AVM and both lesions contained somatic KRAS mutations. A rare AVM phenotype exists that shares clinical features with congenital hemangioma. |
| تدمد: | 1399-0004 0009-9163 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7756760ee01e191f683e02f8d1f2c911 https://doi.org/10.1111/cge.13833 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....7756760ee01e191f683e02f8d1f2c911 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13990004 00099163 |
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