Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant

Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germline variants in RASA1 and EPHB4. We report two individuals with...

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Detalles Bibliográficos
Autores principales: Eng, Whitney, Sudduth, Christopher L., Konczyk, Dennis J., Smits, Patrick J., Taghinia, Amir H., Fishman, Steven J., Alomari, Ahmad, Adams, Denise M., Greene, Arin K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751413/
https://www.ncbi.nlm.nih.gov/pubmed/34607843
http://dx.doi.org/10.1101/mcs.a006118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751413/
https://www.ncbi.nlm.nih.gov/pubmed/34607843
http://dx.doi.org/10.1101/mcs.a006118

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