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Article

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

European journal of pediatrics - 1 Nov 2006

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

Abstract excerpt

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-...

Read the complete abstract on PubMed

Topics

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Share to Cardiomyopathy, Hypertrophic
Share to Diagnosis, Differential
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to LEOPARD Syndrome

Share to Noonan Syndrome

Share to Prenatal Diagnosis

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Share to Protein Tyrosine Phosphatases

Source

Identifiers

PMID: 16733669
DOI: 10.1007/s00431-006-0163-7

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16733669-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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