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Article

Genetics and variation in phenotype in Noonan syndrome.

Hormone research - 1 Jan 2004

Jongmans Marjolijn, Otten Barto, Noordam Kees, van der Burgt Ineke

Abstract excerpt

Noonan syndrome is a well-known clinical entity comprising multiple congenital anomalies characterized by typical facial features, short stature and congenital heart defect. Approximately 50% of cases are sporadic. Familial cases are generally autosomal dominant. In 2001 a gene responsible for Noonan syndrome, PTPN11, encoding for the non-receptor protein tyrosine phosphatase SHP-2, was identified. Mutation...

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Source

Identifiers

PMID: 15539800
DOI: 10.1159/000080500

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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Genetics and variation in phenotype in Noonan syndrome.PMID 15539800Read ↗

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Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.Semantic proximity Read ↗

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.Semantic proximity Read ↗

Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?Semantic proximity Read ↗

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.Semantic proximity Read ↗

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