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Article

Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?

Hormone research - 1 Jan 2006

Kitsiou-Tzeli Sophia, Papadopoulou Anna, Kanaka-Gantenbein Christina, Fretzayas Andreas, Daskalopoulos Dimitris, Kanavakis Emmanuel, Nicolaidou Polyxeni

Abstract excerpt

BACKGROUND: Noonan syndrome NS (OMIM 163950) is an autosomal dominant developmental disorder characterized mainly by typical facial dysmorphism, growth retardation and variable congenital heart defects. In unrelated individuals with sporadic or familial NS, heterozygous missense point mutations i...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16804314
DOI: 10.1159/000094145

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16804314-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?PMID 16804314Read ↗

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