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Article

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.

Pediatrics - 1 Jun 2007

Sznajer Yves, Keren Boris, Baumann Clarisse, Pereira Sabrina, Alberti Corinne, Elion Jacques, Cavé Hélène, Verloes Alain

Abstract excerpt

OBJECTIVE: Noonan syndrome is a clinically homogeneous but genetically heterogeneous condition. Type 1 Noonan syndrome is defined by the presence of a mutation in the PTPN11 gene, which is found in approximately 40% of the cases. Phenotype descriptions and cardiac defects from cohorts with Noonan syndrome were delineated in the "pregenomic era." We report the heart defects and links to gene dysfunction in cardiac...

Topics

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Child, Preschool
Heart Defects, Congenital
Heart Septal Defects, Atrial
Intracellular Signaling Peptides and Proteins
Noonan Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Tyrosine Phosphatase, Non-Receptor Type 1

Protein Tyrosine Phosphatase, Non-Receptor Type 11

Protein Tyrosine Phosphatases

Source

Identifiers

PMID: 17515436
DOI: 10.1542/peds.2006-0211

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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