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Article

[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts].

Medycyna wieku rozwojowego - 1 Jan 2000

Klapecki Jakub, Obersztyn Ewa, Laniewski-Wollk Mikolaj, Szpecht-Potocka Agnieszka, Mazurczak Tadeusz

Abstract excerpt

Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder. With incidence of 1/1000 to 1/2500 live births, NS belongs to the most common genetic disorders. Typical features of NS are: short stature, chest deformities, congenital heart defects, cryptorchidism and dysmorphic features. Muta...

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Topics

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Share to Abnormalities, Multiple
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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

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Source

Identifiers

PMID: 17028394

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17028394-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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