Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Article
in En
| MEDLINE
| ID: mdl-34607843
ABSTRACT
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 Parkes Weber syndrome of the leg and primary lymphedema containing a somatic KRAS variant (NM_004985.5c.35G > A; p.Gly12Asp). KRAS variants, which cause somatic intracranial and extracranial arteriovenous malformations, also result in Parkes Weber syndrome with lymphatic malformations.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Arteriovenous Malformations
/
Sturge-Weber Syndrome
/
Arteriovenous Fistula
/
Lymphedema
Limits:
Humans
Language:
En
Journal:
Cold Spring Harb Mol Case Stud
Year:
2021
Document type:
Article
Affiliation country: