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Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature.

Agostino GaudioAnastasia XourafaRosario RapisardaCristina GorgoneMaria GnoliElena PedriniLuca SangiorgiAntonino CatalanoLuca ZanoliTeresa MattinaPietro Castellino
Published in: Clinical case reports (2020)
Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we describe a famliar case of OP and review the literature.
Keyphrases
  • case report
  • bone mineral density
  • systematic review
  • soft tissue
  • bone loss
  • early onset
  • genome wide
  • bone regeneration
  • copy number
  • gene expression
  • dna methylation