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01-11-2006 | Short Report

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

Authors: M. Cristina Digilio, Anna Sarkozy, Giuseppe Pacileo, Giuseppe Limongelli, Bruno Marino, Bruno Dallapiccola

Published in: European Journal of Pediatrics | Issue 11/2006

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.

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Title: PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”
Authors: M. Cristina Digilio
Anna Sarkozy
Giuseppe Pacileo
Giuseppe Limongelli
Bruno Marino
Bruno Dallapiccola
Publication date: 01-11-2006
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 11/2006
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-006-0163-7

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

Abstract

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Springer Medicine

Abstract

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