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Article

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Nov 2013

Essawi Mona L, Ismail Manal F, Afifi Hanan H, Kobesiy Maha M, El Kotoury Ahmed, Barakat Maged M

Abstract excerpt

BACKGROUND/PURPOSE: Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be caused by missense mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene, which encodes src homology region 2 domain containing tyrosine phosphatase-2 (SHP-2), a protein tyrosine phosphatase that acts in signal transduction...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 24183200
DOI: 10.1016/j.jfma.2012.06.002

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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