Back to Search
Start Over
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines
- Source :
- European journal of medical genetics, 59(8), 425-428. Elsevier Masson SAS, European Journal of Medical Genetics, 59(8), 425–428. Elsevier Masson SAS
- Publication Year :
- 2016
-
Abstract
- A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a different molecular pathogenesis and effect on the RAS/MEK pathway, NSML shares the development of MGCL, with other RASopathies.
- Subjects :
- 0301 basic medicine
Male
musculoskeletal diseases
inorganic chemicals
Pathology
medicine.medical_specialty
endocrine system
Biopsy
Mandible
Case Reports
030105 genetics & heredity
Biology
LEOPARD Syndrome
Giant Cells
03 medical and health sciences
Genetics
medicine
Maxilla
Journal Article
Humans
Noonan syndrome
Child
LEOPARD syndrome
Genetics (clinical)
Skin
medicine.diagnostic_test
Molecular pathogenesis
General Medicine
Anatomy
medicine.disease
030104 developmental biology
Tomography x ray computed
Phenotype
Jaw
Giant cell
Giant cell tumor
Giant cell granuloma
Tomography, X-Ray Computed
Noonan Syndrome with Multiple Lentigines
Lentigines
Subjects
Details
- Language :
- English
- ISSN :
- 17697212
- Database :
- OpenAIRE
- Journal :
- European journal of medical genetics, 59(8), 425-428. Elsevier Masson SAS, European Journal of Medical Genetics, 59(8), 425–428. Elsevier Masson SAS
- Accession number :
- edsair.doi.dedup.....b9e96bfed244986d4c25f5ce14364c33