Parmentier, Laurent; Tomlinson, Ian; Happle, Rudolf; Borradori, Luca (2010). Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis. Dermatology, 221(2), pp. 149-53. Basel: Karger 10.1159/000315068
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Multiple cutaneous and uterine leiomyomata syndrome (MCUL; MIM 150800) is a rare condition that sometimes predisposes to renal cancer. It is caused by deleterious mutations in the fumarate hydratase (FH) gene. In many patients, skin leiomyomas have been reported to develop according to a segmental type 1 or type 2 distribution. We report a patient showing multiple leiomyomas distributed according to a segmental type 2 distribution and covering several areas exclusively on the left side of his body.
Item Type: |
Journal Article (Further Contribution) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Dermatology |
UniBE Contributor: |
Parmentier, Laurent Philippe Simon, Borradori, Luca |
ISSN: |
1018-8665 |
Publisher: |
Karger |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 14:12 |
Last Modified: |
21 Jun 2023 11:36 |
Publisher DOI: |
10.1159/000315068 |
PubMed ID: |
20628236 |
Web of Science ID: |
000281519000012 |
BORIS DOI: |
10.48350/2263 |
URI: |
https://boris.unibe.ch/id/eprint/2263 (FactScience: 204654) |
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