Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

BACKGROUND: Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although several hundred cases were reported worldwide, the diagnosis remains challen...

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Pubblicato in:BMC Med Genet
Autori principali: Pode-Shakked, Ben, Vivante, Asaf, Barel, Ortal, Padeh, Shai, Marek-Yagel, Dina, Veber, Alvit, Abudi, Shachar, Eliyahu, Aviva, Tirosh, Irit, Shpilman, Shiri, Shril, Shirlee, Hildebrandt, Friedhelm, Shohat, Mordechai, Anikster, Yair
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6439983/
https://ncbi.nlm.nih.gov/pubmed/30922245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0787-x
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