Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals

Abstract Background Rare bone diseases (RBDs) are an important group of conditions characterized by abnormalities in bone and cartilage. Their large number, individual rarity, and heterogeneity make accurate and timely diagnosis challenging. Establishing correlations between genotype and phenotype (...

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Main Authors: Behnam Javanmardi, Rebekah L. Waikel, Tinatin Tkemaladze, Shahida Moosa, Alexander Küsshauer, Jean Tori Pantel, Minu Fardipour, Peter Krawitz, Benjamin D. Solomon, Klaus Mohnike
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Online Access:https://doi.org/10.1186/s13023-025-03875-1
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