WISP3 mutation associated with pseudorheumatoid dysplasia

Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole-e...

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Vydáno v:Cold Spring Harb Mol Case Stud
Hlavní autoři: Sailani, M. Reza, Chappell, James, Jingga, Inlora, Narasimha, Anil, Zia, Amin, Lynch, Janet Linnea, Mazrouei, Safoura, Bernstein, Jonathan A., Aryani, Omid, Snyder, Michael P.
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2018
Témata:
Research Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5793776/
https://ncbi.nlm.nih.gov/pubmed/29092958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001990
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