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Article

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

European journal of human genetics : EJHG - 1 Jan 2003

Schollen Els, Matthijs Gert, Gewillig Marc, Fryns Jean-Pierre, Legius Eric

Abstract excerpt

Noonan syndrome (NS, MIM 163950) is an autosomal dominant condition characterised by facial dysmorphy, congenital cardiac defects and short stature. Recently missense mutations in PTPN11, the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2 on 12q24, were identified in 50% of analysed Noonan cases. A large four-generation Belgian family with NS and some features suggestive of...

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Source

Identifiers

PMID: 12529711
DOI: 10.1038/sj.ejhg.5200915

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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