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Article

Abnormal growth in noonan syndrome: the challenge of optimal therapy.

Pediatric endocrinology reviews : PER - 1 Jun 2009

Savage Martin O, Padidela Raja, Kirk Jeremy M W, Malaquias Alexsandra C, Jorge Alexander A L

Abstract excerpt

Noonan syndrome (NS) is a phenotypically heterogeneous condition frequently associated with short stature. Genetic investigations have identified mutations in several genes, e.g. PTPN11, KRAS, RAF and SOS1 in patients with the NS phenotype and related disorders such as LEOPARD, Costello and Cardiofacio- cutaneous syndromes. In NS, PTPN11 mutations are present in 29-60% of cases. The degree of short stature does...

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Source

Identifiers

PMID: 19550387

Genes

PTPN11
KRAS
SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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