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Article

Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

Scientific reports - 13 Jun 2016

Rai Ekta, Mahajan Ankit, Kumar Parvinder, Angural Arshia, Dhar Manoj K, Razdan Sushil, Thangaraj Kumarasamy, Wise Carol A, Ikegawa Shiro, Pandita Kamal Kishore, Sharma Swarkar

Abstract excerpt

We report identification and genetic characterization of a rare skeletal disorder that remained unidentified for decades in a village of Jammu and Kashmir, India. The population residing in this region is highly consanguineous and a lack of understanding of the disorder has hindered clinical management and genetic counseling for the many affected individuals in the region. We collected familial information and...

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PMID: 27291587
DOI: 10.1038/srep27684
PMCID: PMC4904372

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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