Article
Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.
Lupus - 1 Jun 2016
Bilginer Y, Düzova A, Topaloğlu R, Batu E D, Boduroğlu K, Güçer Ş, Bodur I, Alanay Y
Abstract excerpt
Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by recessive mutations in the ACP5 gene, and it is characterized by the persistence of chondroid tissue islands within the bone. The clinical spectrum of SPENCD includes neurological involvement and immune dysfunction, such as systemic lupus erythematosus (SLE). To date, there are only 12 reported cases of SPENCD...
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