Cargando...

Arteriovenous Malformation Associated with a HRAS Mutation

The majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. We report a somatic HRAS mutation in a patient who has a facial AVM associated with subcutaneous adipose overgrowth. We performed whole exome sequencing on DNA from the affected tissue and foun...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Hum Genet
Autores principales: Konczyk, Dennis J., Goss, Jeremy A., Smits, Patrick J., Huang, August Y., Al-Ibraheemi, Alyaa, Sudduth, Christopher L., Warman, Matthew L., Greene, Arin K.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6874881/
https://ncbi.nlm.nih.gov/pubmed/31637524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-02072-y
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!