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Article

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

American journal of medical genetics. Part A - 1 Jun 2011

Ekvall Sara, Hagenäs Lars, Allanson Judith, Annerén Göran, Bondeson Marie-Louise

Abstract excerpt

Noonan syndrome (NS) is a heterogeneous disorder caused by activating mutations in the RAS-MAPK signaling pathway. It is associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity, and typical facial features and the inheritance is autosomal dominant. Here, we present a clinical and molecular characterization of a patient with Noonan-like syndrome with...

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Source

Identifiers

PMID: 21548061
DOI: 10.1002/ajmg.a.33987

Genes

PTPN11
BRAF
KRAS
NRAS
RAF1
SOS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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