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Article

Noonan syndrome: Severe phenotype and PTPN11 mutations.

Medicina clinica - 18 Jan 2019

Carrasco Salas Pilar, Gómez-Molina Gertrudis, Carreto-Alba Páxedes, Granell-Escobar Reyes, Vázquez-Rico Ignacio, León-Justel Antonio

Abstract excerpt

INTRODUCTION AND OBJECTIVE: Noonan syndrome (NS) is a genetic disorder characterized by a wide range of distinctive features and health problems. It caused in 50% of cases by missense mutations in PTPN11 gene. It has been postulated that it is possible to predict the disease course based into the impact of mutations on the protein. PATIENTS AND METHODS: We report two cases of severe NS phenotype including hydrops...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 29703613
DOI: 10.1016/j.medcli.2018.03.015

Genes

PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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