Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India

Ajay Kumar Chaudhary, Aishwarya Gholse, Hampapathalu Adimurthy Nagarajaram, Ashwin Bhikaji Dalal, Neerja Gupta, Atanu Kumar Dutta, Sumita Danda, Rekha Gupta, Hariharan V. Sankar, Gandham Sri Lakshmi Bhavani, Katta M. Girisha, Shubha Rao Phadke, Prajnya Ranganath, Murali Dharan Bashyam

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Medicine & Life Sciences