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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 molecular characterization of a family with NS and multiple giant cell lesions (MGCLs). The proband is a 12-year-old...

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Identifiers

PMID: 24225993
DOI: 10.1038/jhg.2013.118

Genes

PTPN11

Variants

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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.

Related research

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Research trail→

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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 studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.Semantic proximity Read ↗

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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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