A new LRP6 variant and Camurati-Engelmann-like disease

نویسندگان

چکیده

Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses. Genetic analysis classically shows mutation on TGF?1 gene. A young woman was hospitalized with intense pain in lower limbs, associated radiographic hyperostosis and sclerosis long bones. Mutation LRP6 has recently been high mass. In this case report, missense variant gene features Camurati-Engelmann. More studies should be conducted assess pathological role Camurati-Engelmann-like disease.

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ژورنال

عنوان ژورنال: Bone

سال: 2021

ISSN: ['8756-3282', '1873-2763']

DOI: https://doi.org/10.1016/j.bone.2020.115706