| Autor: |
Cedric Thues, Sarah Lechner, Barbara Neerinckx, Rene Westhovens, Hilde Van Esch, Carine Wouters |
| Rok vydání: |
2015 |
| Předmět: |
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| Zdroj: |
Human Genome Variation |
| ISSN: |
2054-345X |
| DOI: |
10.1038/hgv.2015.49 |
| Popis: |
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 deletion of exon 1 and of the 5'UTR of the WISP3 gene. This is the first time that a gross deletion has been described as the causal mutation in PPD. ispartof: Human Genome Variation vol:2 pages:15049- status: published |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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