Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation

Autor:	G, Leventopoulos, E, Denayer, P, Makrythanasis, C, Papapolychroniou, H, Fryssira
Rok vydání:	2010
Předmět:	Proto-Oncogene Proteins p21(ras) Adolescent Proto-Oncogene Proteins Mutation Noonan Syndrome ras Proteins Humans Lupus Erythematosus Systemic Female Genetic Predisposition to Disease Comorbidity
Zdroj:	Clinical and experimental rheumatology. 28(4)
ISSN:	0392-856X
Popis:	Noonan syndrome is characterised by distinct facial stigmata, short stature and congenital cardiopathy. It has a high genetic heterogeneity and mutations in six different genes can be involved. We report a patient with Noonan syndrome and a novel KRAS mutation who presents systemic lupus erythematosus.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::712beaf7c3d9566fe9b982cacdec9a57 https://pubmed.ncbi.nlm.nih.gov/20810036 Zobrazit plný text záznamu