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Article

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.

International journal of molecular sciences - 11 Oct 2024

Megalizzi Domenica, Trastulli Giulia, Colantoni Luca, Proietti Piorgo Emma, Primiano Guido, Sancricca Cristina, Caltagirone Carlo, Cascella Raffaella, Strafella Claudia, Giardina Emiliano

Abstract excerpt

Rare diseases are heterogeneous diseases characterized by various symptoms and signs. Due to the low prevalence of such conditions (less than 1 in 2000 people), medical expertise is limited, knowledge is poor and patients' care provided by medical centers is inadequate. An accurate diagnosis is frequently challenging and ongoing research is also insufficient, thus complicating the understanding of the natural...

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Share to Muscular Dystrophy, Facioscapulohumeral

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39456731
DOI: 10.3390/ijms252010949
PMCID: PMC11507453

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