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.
Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature
Gaudio A.
Primo
Conceptualization
;Zanoli L.;Mattina T.;Castellino P.Ultimo
2020-01-01
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.File in questo prodotto:
File | Dimensione | Formato | |
---|---|---|---|
129 - 2020 - Gaudio - Familiar osteopoikilosis.pdf
solo gestori archivio
Tipologia:
Versione Editoriale (PDF)
Dimensione
631.03 kB
Formato
Adobe PDF
|
631.03 kB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.