Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant.

Autor:	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.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2021 Dec 09; Vol. 7 (6). Date of Electronic Publication: 2021 Dec 09 (Print Publication: 2021).
DOI:	10.1101/mcs.a006118
Abstrakt:	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_004985.5:c.35G > A; p.Gly12Asp). KRAS variants, which cause somatic intracranial and extracranial arteriovenous malformations, also result in Parkes Weber syndrome with lymphatic malformations. (© 2021 Eng et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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