Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway
Jose L. Fernandez‐Luna,
José L. Hernández,
Soraya Curiel‐Olmo
et al.
Abstract:BackgroundBone tissue homeostasis relies on the coordinated activity of the bone‐forming osteoblasts and bone‐resorbing osteoclasts. Osteomesopyknosis is considered a distinctive rare sclerosing skeletal disorder of unelucidated pathophysiology and presumably autosomal dominant transmission. However, the causal genes are unknown.MethodsWe present a case report encompassing clinical assessments, imaging studies, and whole‐exome sequencing analysis, complemented by functional in vitro experiments.ResultsThis new… Show more
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