PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

被引：0
作者：
M. Cristina Digilio
Anna Sarkozy
Giuseppe Pacileo
Giuseppe Limongelli
Bruno Marino
Bruno Dallapiccola
机构：
[1] Bambino Gesù Hospital,Medical Genetics
[2] University La Sapienza and CSS-Mendel Institute,Experimental Medicine and Pathology
[3] Monaldi Hospital,Pediatric Cardiology
[4] Department of Pediatrics,Pediatric Cardiology
[5] University La Sapienza,undefined
来源：
European Journal of Pediatrics | 2006年 / 165卷
关键词：
Hypertrophic cardiomyopathy; LEOPARD syndrome; Noonan syndrome; gene;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：803 / 805
页数：2
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