Article
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
European journal of human genetics : EJHG - 1 Oct 2024
Pande Shruti, Majethia Purvi, Nair Karthik, Rao Lakshmi Priya, Mascarenhas Selinda, Kaur Namanpreet, do Rosario Michelle C, Neethukrishna Kausthubham, Chaurasia Ankur, Hunakunti Bhagesh, Jadhav Nalesh, Xavier Sruthy, Kumar Jeevan, Bhat Vivekananda, Bhavani Gandham SriLakshmi, Narayanan Dhanya Lakshmi, Yatheesha B L, Patil Siddaramappa J, Nampoothiri Sheela, Kamath Nutan, Aroor Shrikiran, Bhat Y Ramesh, Lewis Leslie E, Sharma Suvasini, Bajaj Shruti, Sankhyan Naveen, Siddiqui Shahyan, Nayak Shalini S, Bielas Stephanie, Girisha Katta Mohan, Shukla Anju
Abstract excerpt
The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic...
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