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PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain

BACKGROUND: LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair and Legius syndrome. These conditions are cause...

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Detalles Bibliográficos
Autores principales: Spatola, Marianna, Wider, Christian, Kuntzer, Thierry, Croquelois, Alexandre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407356/
https://www.ncbi.nlm.nih.gov/pubmed/25884655
http://dx.doi.org/10.1186/s12883-015-0310-8