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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Библиографические подробности
Опубликовано в: :BMC Med Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2019
Предметы:
Research Article
Online-ссылка: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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