Rare genetic cause of polyarticular deformity and contracture: a feathered mystery
Rare genetic cause of polyarticular deformity and contracture: a feathered mystery
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Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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Contents
Keeping a high possibility of PPD, Sanger sequencing was done which revealed a homogenous pathogenic novel sequence variation in the intron 1 of the WNT1-inducible signalling pathway protein 3 (WISP 3) gene, confirming the diagnosis. The exact pathology is due to loss of function mutations of WISP3 gene, involved in the integrity of articular carti...
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Full title
Rare genetic cause of polyarticular deformity and contracture: a feathered mystery
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TN_cdi_proquest_miscellaneous_3162572187
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3162572187
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ISSN
1757-790X
E-ISSN
1757-790X
DOI
10.1136/bcr-2024-264058
