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Article

Genotype-phenotype correlations in Noonan syndrome.

The Journal of pediatrics - 1 Mar 2004

Zenker Martin, Buheitel Gernot, Rauch Ralf, Koenig Rainer, Bosse Kirstin, Kress Wolfram, Tietze Hans-Ulrich, Doerr Helmuth-Guenther, Hofbeck Michael, Singer Helmut, Reis André, Rauch Anita

Abstract excerpt

OBJECTIVE: To study genotype-phenotype correlations in a cohort of clinically well-characterized pediatric patients with Noonan syndrome (NS). Study design Fifty-seven unrelated patients with the clinical diagnosis of NS ascertained according to standardized inclusion criteria were prospectively enrolled. Mutational analysis was performed by direct sequencing of the entire coding sequence of the PTPN11 gene....

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Source

Identifiers

PMID: 15001945
DOI: 10.1016/j.jpeds.2003.11.032

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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