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Eur J Pediatr. 2006 Nov;165(11):803-5. Epub 2006 May 30.

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

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1
Medical Genetics, Bambino Gesù Hospital, Rome, Italy, digilio@opbg.net.

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.

PMID:
16733669
DOI:
10.1007/s00431-006-0163-7
[Indexed for MEDLINE]
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