Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature
Articolo
Data di Pubblicazione:
2021
Abstract:
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.
Tipologia CRIS:
14.a.1 Articolo su rivista
Keywords:
enostoses; LEMD3 gene; osteopoikilosis; sclerosing bone dysplasia
Elenco autori:
Gaudio, A.; Xourafa, A.; Rapisarda, R.; Gorgone, C.; Gnoli, M.; Pedrini, E.; Sangiorgi, L.; Catalano, A.; Zanoli, L.; Mattina, T.; Castellino, P.
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