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

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. PATIE...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821553/
https://www.ncbi.nlm.nih.gov/pubmed/33482860
http://dx.doi.org/10.1186/s13023-021-01674-y

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