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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4904372/
https://www.ncbi.nlm.nih.gov/pubmed/27291587
http://dx.doi.org/10.1038/srep27684

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