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Article

Orthopaedic conditions in Ras/MAPK related disorders.

Journal of pediatric orthopedics - 1 Jan 2000

Reinker Kent A, Stevenson David A, Tsung Ann

Abstract excerpt

BACKGROUND: The RAS/MAPK disorders [Noonan syndrome, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, and Leopard syndrome] are heterogenous conditions with phenotypic overlap. Their orthopaedic manifestations are not well defined, and their phenotypic similarity makes differentiating them difficult. METHODS: We prospectively evaluated 60 individuals: 26 with Noonan syndrome, 32 with CFC syndrome, and 2...

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Source

Identifiers

PMID: 21654472
DOI: 10.1097/BPO.0b013e318220396e

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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.

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Clinical overview on RASopathies.Semantic proximity Read ↗

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Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.Semantic proximity Read ↗

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.Semantic proximity Read ↗

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disordersSemantic proximity Read ↗

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Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.Semantic proximity Read ↗

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