Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type

Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal recessive condition characterized by mild spondyloepiphyseal dysplasia and severe, progressive, early-onset arthritis due to WISP3 mutations. Spondyloepiphyseal dysplasia (SED), Stanescu type, is a vaguely delineated autosomal domina...

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Vydáno v:Hum Mutat
Hlavní autoři: Jurgens, Julie, Sobreira, Nara, Modaff, Peggy, Reiser, Catherine A., Seo, Soo Hyun, Seong, Moon-Woo, Park, Sung Sup, Kim, Ok Hwa, Cho, Tae-Joon, Pauli, Richard M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4575260/
https://ncbi.nlm.nih.gov/pubmed/26183434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22839
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