Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1

Parkes Weber syndrome is associated with autosomal dominant inheritance, caused by germline heterozygous inactivating changes in the RASA1 gene, characterized by multiple micro arteriovenous fistulas and segmental overgrowth of soft tissue and skeletal components. The focal nature and variable expre...

Descripción completa

Detalles Bibliográficos
Autores principales: Flores Daboub, Josue A., Grimmer, Johanes Fred, Frigerio, Alice, Wooderchak-Donahue, Whitney, Arnold, Ryan, Szymanski, Jeff, Longo, Nicola, Bayrak-Toydemir, Pinar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476407/
https://www.ncbi.nlm.nih.gov/pubmed/32843429
http://dx.doi.org/10.1101/mcs.a005256

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476407/
https://www.ncbi.nlm.nih.gov/pubmed/32843429
http://dx.doi.org/10.1101/mcs.a005256

Ejemplares similares