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Article

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

The Journal of clinical endocrinology and metabolism - 1 Sept 2005

Ferreira Lize V, Souza Silvia A L, Arnhold Ivo J P, Mendonca Berenice B, Jorge Alexander A L

Abstract excerpt

CONTEXT: The cause of growth impairment in Noonan syndrome (NS) remains unclear. Mutations in PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) that codify constitutively activated Src homology protein tyrosine phosphatase-2 tyrosine phosphatase and may interfere with GH and IGF-I signaling were identified in approximately 40% of patients with NS. OBJECTIVE: The objective of this study was to evaluate...

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Source

Identifiers

PMID: 15956085
DOI: 10.1210/jc.2004-2559

Genes

PTPN11

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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