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Article

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

American journal of human genetics - 1 Feb 2006

Tartaglia Marco, Martinelli Simone, Stella Lorenzo, Bocchinfuso Gianfranco, Flex Elisabetta, Cordeddu Viviana, Zampino Giuseppe, Burgt Ineke van der, Palleschi Antonio, Petrucci Tamara C, Sorcini Mariella, Schoch Claudia, Foa Robin, Emanuel Peter D, Gelb Bruce D

Abstract excerpt

Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), whereas somatic mutations in the same gene contribute to leukemogenesis. On the basis of our previously gathered genetic and biochemical data, we proposed a model that splits NS- and leukemia-associated PTPN11 mutations into two major classes of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 16358218
DOI: 10.1086/499925
PMCID: PMC1380235

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.PMID 16358218Read ↗

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