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Article

Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review.

Orphanet journal of rare diseases - 26 Oct 2021

Tiemens Dagmar K, Nugteren Jacqueline, Leenders Erika, Wingbermühle Ellen, Pittens Carina A C M, Draaisma Jos M Th

Abstract excerpt

BACKGROUND: Noonan syndrome spectrum disorders are a group of disorders caused by mutations in several genes of the RAS/MAPK pathway. Because of a highly heterogeneity and variable phenotypical manifestations of the disorders, these children and adults have a variable number of symptoms. Inclusion of their perceived experience of their health and developmental problems in research (design) could contribute to...

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Identifiers

PMID: 34702330
DOI: 10.1186/s13023-021-02083-x
PMCID: PMC8549341

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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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