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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)803-805
Number of pages3
JournalEuropean Journal of Pediatrics
Volume165
Issue number11
DOIs
Publication statusPublished - Nov 2006

Keywords

  • Hypertrophic cardiomyopathy
  • LEOPARD syndrome
  • Noonan syndrome
  • PTPN11 gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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