PTPN11基因突变：将谷氨酰胺510谷氨酸突变与“豹皮综合征表型”联系起来。
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
作者信息
Digilio M Cristina, Sarkozy Anna, Pacileo Giuseppe, Limongelli Giuseppe, Marino Bruno, Dallapiccola Bruno
机构信息
Medical Genetics, Bambino Gesù Hospital, Rome, Italy,
出版信息
Eur J Pediatr. 2006 Nov;165(11):803-5. doi: 10.1007/s00431-006-0163-7. Epub 2006 May 30.
PMID:16733669
Abstract
We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.
摘要
我们描述了两名患有快速进展性严重双心室梗阻性肥厚型心肌病、二尖瓣结构异常、面部异常、咖啡牛奶斑和多发雀斑的患者，其与PTPN11基因Gln510Glu突变相关的“豹综合征（LS）表型”。
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