| Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation. | |
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MedLine Citation:
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PMID: 20810036 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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G Leventopoulos; E Denayer; P Makrythanasis; C Papapolychroniou; H Fryssira |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-08-30 |
Journal Detail:
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Title: Clinical and experimental rheumatology Volume: 28 ISSN: 0392-856X ISO Abbreviation: Clin. Exp. Rheumatol. Publication Date: 2010 Jul-Aug |
Date Detail:
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Created Date: 2010-09-02 Completed Date: 2010-12-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8308521 Medline TA: Clin Exp Rheumatol Country: Italy |
Other Details:
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Languages: eng Pagination: 556-7 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. levent2669@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Comorbidity Female Genetic Predisposition to Disease / genetics Humans Lupus Erythematosus, Systemic / diagnosis, epidemiology*, genetics* Mutation / genetics* Noonan Syndrome / diagnosis, epidemiology*, genetics* Proto-Oncogene Proteins / genetics* ras Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/KRAS protein, human; 0/Proto-Oncogene Proteins; EC 3.6.5.2/ras Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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