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

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.

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Dettagli Bibliografici
Pubblicato in:Clin Case Rep
Autori principali: Gaudio, Agostino, Xourafa, Anastasia, Rapisarda, Rosario, Gorgone, Cristina, Gnoli, Maria, Pedrini, Elena, Sangiorgi, Luca, Catalano, Antonino, Zanoli, Luca, Mattina, Teresa, Castellino, Pietro
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
Soggetti:
Case Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7869386/
https://ncbi.nlm.nih.gov/pubmed/33598273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3611
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