Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant
© 2021 Eng et al.; Published by Cold Spring Harbor Laboratory Press..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:7 |
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| Enthalten in: |
Cold Spring Harbor molecular case studies - 7(2021), 6 vom: 15. Dez. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Eng, Whitney [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 12.01.2022 Date Revised 31.05.2022 published: Electronic-Print Citation Status MEDLINE |
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| doi: |
10.1101/mcs.a006118 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM331490994 |
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| 520 | |a © 2021 Eng et al.; Published by Cold Spring Harbor Laboratory Press. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
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