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

被引：29

作者：

Digilio, M. Cristina ^{[1
]}

Sarkozy, Anna

Pacileo, Giuseppe

Limongelli, Giuseppe

Marino, Bruno

Dallapiccola, Bruno

机构：

[1] Bambino Gesu Pediat Hosp, Rome, Italy

[2] Univ Roma La Sapienza, Dept Pediat, Rome, Italy

[3] CSS Mendel Inst, Rome, Italy

[4] Monaldi Hosp, Naples, Italy

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2006年 / 165卷 / 11期

关键词：

hypertrophic cardiomyopathy; LEOPARD syndrome; Noonan syndrome; PTPN11; gene;

D O I：

10.1007/s00431-006-0163-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

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, cafe-au-lait spots and multiple lentigines.

引用

收藏

页码：803 / 805

页数：3

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