患者同时患有努南综合征和系统性红斑狼疮，存在 KRAS 基因突变。
Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation.
机构信息
Department of Clinical Genetics, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
出版信息
Clin Exp Rheumatol. 2010 Jul-Aug;28(4):556-7. Epub 2010 Aug 30.
PMID:20810036
Abstract
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.
摘要
努南综合征的特征是具有明显的面部特征、身材矮小和先天性心脏病。它具有高度的遗传异质性，可能涉及六个不同基因的突变。我们报告了一例努南综合征患者，该患者存在新的 KRAS 突变，并表现出系统性红斑狼疮。
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