A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings

Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disease that causes progressive joint stiffness and pain. It is associated with loss-of-function mutations in the WISP3 gene. We describe two sisters suffering from PPD in whom molecular genetic analysis revealed a homozygous...

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Библиографические подробности
Опубликовано в: :Hum Genome Var
Главные авторы: Neerinckx, Barbara, Thues, Cedric, Wouters, Carine, Lechner, Sarah, Westhovens, Rene, Van Esch, Hilde
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2015
Предметы:
Data Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785582/
https://ncbi.nlm.nih.gov/pubmed/27081554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.49
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