Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway

Abstract Background Bone 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 transmissio...

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發表在:	Molecular Genetics & Genomic Medicine
Main Authors:	Jose L. Fernandez‐Luna, José L. Hernández, Soraya Curiel‐Olmo, Néstor A. Martínez‐Amador, Ana I. Vega, Remedios Quirce, Santiago Montes‐Moreno, Olga Gutierrez, Alvaro delReal, Carolina Sañudo, Jose A. Riancho
格式:	Article
語言:	英语
出版:	Wiley 2024-05-01
主題:	ALOX5 osteomesopyknosis osteoprotegerin osteosclerosis RANKL
在線閱讀:	https://doi.org/10.1002/mgg3.2471