Article
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
European journal of human genetics : EJHG - 1 May 2025
Jacob Prince, Singh Swati, Bhavani Gandham SriLakshmi, Gowrishankar Kalpana, Narayanan Dhanya Lakshmi, Nampoothiri Sheela, Patil S J, Soni J P, Muranjan Mamta, Kapoor Seema, Dhingra Bhavna, Bhat Ballambattu Vishnu, Bajaj Shruti, Banerjee Amrita, Mamadapur Mahabaleshwar, Hariharan Sankar V, Kamath Nutan, Shenoy Rathika D, Suri Deepti, Shukla Anju, Dalal Ashwin, Phadke Shubha R, Nishimura Gen, Mortier Geert, Shah Hitesh, Girisha Katta M
Abstract excerpt
Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier. We achieved a clinical-molecular diagnosis in 145 families by...
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