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Article

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Orphanet journal of rare diseases - 22 Jan 2021

Leoni Chiara, Romeo Domenico Marco, Pelliccioni Michele, Di Già Mariangela, Onesimo Roberta, Giorgio Valentina, Flex Elisabetta, Tedesco Marta, Tartaglia Marco, Rigante Donato, Valassina Antonio, Zampino Giuseppe

Abstract excerpt

BACKGROUND: Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized. PATIENTS AND METHODS: Herein we reported data on orthopedic findings and functional status of a large sample of CS and...

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Identifiers

PMID: 33482860
DOI: 10.1186/s13023-021-01674-y
PMCID: PMC7821553

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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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