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Article

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.

Journal of human genetics - 1 Jan 2014

Carapito Raphael, Paul Nicodème, Untrau Meiggie, Ott Louise, Corradini Nadège, Poignant Sylvaine, Geffroy Loïc, Caldagues Emmanuelle, Heymann Marie-Françoise, Cassagnau Elisabeth, Isidor Bertrand, Bahram Seiamak

Abstract excerpt

Noonan syndrome (NS), an autosomal dominant multisystem disorder, is caused by the dysregulation of the RAS-MAPK pathway and is characterized by short stature, heart defects, pectus excavatum, webbed neck, learning problems, cryptorchidism and facial dysmorphism. We here present the clinical and...

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Source

Identifiers

PMID: 24225993
DOI: 10.1038/jhg.2013.118

Genes

PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24225993-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.PMID 24225993Read ↗

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Molecular and Clinical Profile of patients referred as Noonan or Noonan-like Syndrome in Greece: a cohort of 86 patientsSemantic proximity Read ↗

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