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Article

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

American journal of medical genetics. Part A - 1 Sept 2014

Edwards Jonathan J, Martinelli Simone, Pannone Luca, Lo Ivan Fai-Man, Shi Lisong, Edelmann Lisa, Tartaglia Marco, Luk Ho-Ming, Gelb Bruce D

Abstract excerpt

The RASopathies are a relatively common group of phenotypically similar and genetically related autosomal dominant genetic syndromes caused by missense mutations affecting genes participating in the RAS/mitogen-activated protein kinase (MAPK) pathway that include Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML, formerly LEOPARD syndrome). NS and NSML can be difficult to differentiate...

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Source

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Identifiers

PMID: 24891296
DOI: 10.1002/ajmg.a.36620
PMCID: PMC4134745

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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A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.PMID 24891296Read ↗

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