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

Digilio M. C.
Sarkozy A.
Pacileo G.
Limongelli G.
Marino B.
Dallapiccola B.

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Publication date

January 2006

DOI

10.1007/s00431-006-0163-7

Publisher

Springer Science and Business Media LLC

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. © Springer-Verlag 2006

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

Abstract

Extracted data

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

Abstract

Extracted data

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