Article
Genetics of 67 patients of suspected primary ciliary dyskinesia from India.
Clinical genetics - 1 Nov 2024
Jat Kana Ram, Faruq Mohammed, Jindal Shishir, Bari Shreya, Soni Akshita, Sharma Pooja, Mathews Susi, Shamim Uzma, Ahuja Vanshika, Uppilli Bharathram, Yadav Subhash C, Lodha Rakesh, Arava Sudheer K, Kabra Sushil K
Abstract excerpt
Data are limited on the genetic profile of primary ciliary dyskinesia (PCD) from developing countries. Here, we report one of the first study on genetic profile of patients with suspected PCD from India. In this prospective cross-sectional study, we enrolled 162 children with suspected PCD. We recorded clinical features, relevant laboratory tests for PCD and performed whole exome sequencing (WES). We are...
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