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Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework

Crossref DOI link: https://doi.org/10.1186/s41687-026-01155-5

Published Online: 2026-07-25

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Simeon, Rachele https://orcid.org/0009-0008-0529-354X
Usai, Marina https://orcid.org/0000-0001-5339-2501
Tramonti, Alice

Canova, Renata

Frigerio, Daniela

Berardi, Anna https://orcid.org/0000-0003-0670-5303
Pelosin, Elisa https://orcid.org/0000-0002-9880-2241
Cosentino, Carola https://orcid.org/0000-0001-6009-4350
License Information

Text and Data Mining valid from 2026-07-25

Version of Record valid from 2026-08-11
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Article History

Received: 29 October 2025

Accepted: 12 July 2026

First Online: 25 July 2026

Declarations

Competing interests: The authors declare no competing interests.

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