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Article

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.

Pediatric endocrinology reviews : PER - 1 Jun 2005

Ogata Tsutomu, Yoshida Rie

Abstract excerpt

This review summarizes PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutations and genotype-phenotype correlations in Noonan syndrome (NS) and LEOPARD syndrome (LS). PTPN11 mutations have been identified in approximately 40% of NS patients and in >80% of LS patients. Since the vast majority of mutations reside in and around the broad intramolecular interaction surface between the N-SH2 and PTP...

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Source

Identifiers

PMID: 16208280

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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PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.PMID 16208280Read ↗

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