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Article

Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Feb 2007

Hung Chia-Sui, Lin Ju-Li, Lee Yann-Jinn, Lin Shuan-Pei, Chao Mei-Chyn, Lo Fu-Sung

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant disorder presenting with characteristic facies, short stature, skeletal anomalies, and congenital heart defects. Mutations in protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11), encoding SHP-2, account for 33-50% of NS. This study screened for mutations in the PTPN11 gene in 34 Taiwanese patients with NS. Mutation analysis of the 15 coding exons and...

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Source

Identifiers

PMID: 17339163
DOI: 10.1016/S0929-6646(09)60235-7

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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