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- Title
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).
- Authors
Piard, Juliette; Verloes, Alain; Cavé, Hélène; Peuchmaur, Michel; Bennaceur, Selim; Leheup, Bruno
- Abstract
Noonan syndrome (NS) is a tumor predisposing disorder. Leukemia is observed in 1-3% of patients with NS, with rare occurrences of solid tumors. It also appears to predispose to non-malignant tumors. We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. The patient developed an unusual extensive lipomatosis and we discuss possible relationship between her lipomatosis and NS.
- Publication
American journal of medical genetics. Part A, 2012, Vol 158A, Issue 6, p1406
- ISSN
1552-4833
- Publication type
Journal Article
- DOI
10.1002/ajmg.a.35329