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

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 managem...

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Bibliografske podrobnosti
izdano v:Sci Rep
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4904372/
https://ncbi.nlm.nih.gov/pubmed/27291587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep27684
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