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Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype

Abstract Background Costello syndrome (CS) is a rare genetic disorder within the spectrum of RASopathies, caused by activating mutations in the HRAS gene, leading to constitutive dysregulation of the RAS/MAPK signalling pathway. Among its multisystemic manifestations, a distinctive musculoskeletal i...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, Valentina Trevisan, Ludovica Mondelli, Maria Luigia Angeli, Consolato Gullì, Massimo Tatti, Lucrezia Perri, Iacopo Bellani, Nicolò Lentini, Roberta Pastorino, Eliza Kuczynska, Jacopo Gervasoni, Domenico Marco Maurizio Romeo, Marika Pane, Eugenio Maria Mercuri, Serena Cecchetti, Giovanna Carpentieri, Marco Tartaglia, Giuseppe Zampino, Elisabetta Flex
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2026-04-01
Schriftenreihe:Orphanet Journal of Rare Diseases
Schlagworte:
Costello syndrome
RASopathies
HRAS mutation
Skeletal muscle
Muscle ultrasound
Fibroadipose infiltration
Online-Zugang:https://doi.org/10.1186/s13023-026-04332-3
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