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Article

How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

Cellular and molecular life sciences : CMLS - 1 Jul 2007

Edouard T, Montagner A, Dance M, Conte F, Yart A, Parfait B, Tauber M, Salles J P, Raynal P

Abstract excerpt

Activating and inactivating mutations of SHP-2 are responsible, respectively, for the Noonan (NS) and the LEOPARD (LS) syndromes. Clinically, these developmental disorders overlap greatly, resulting in the apparent paradox of similar diseases caused by mutations that oppositely influence SHP-2 phosphatase activity. While the mechanisms remain unclear, recent functional analysis of SHP-2, along with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17453145
DOI: 10.1007/s00018-007-6509-0
PMCID: PMC11136329

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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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