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Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant.
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.
Affiliation
  • Eng W; Division of Hematology and Oncology, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Sudduth CL; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Konczyk DJ; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Smits PJ; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Taghinia AH; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Fishman SJ; Department of Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Alomari A; Department of Radiology, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Adams DM; Division of Hematology and Oncology, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Greene AK; Department of Plastic and Oral Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
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.
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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:
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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: