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

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Bibliographic Details
Title: Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.
Authors: Chaudhary, Ajay Kumar1, Gholse, Aishwarya2, Nagarajaram, Hampapathalu Adimurthy2, Dalal, Ashwin Bhikaji3, Gupta, Neerja4, Dutta, Atanu Kumar5, Danda, Sumita5, Gupta, Rekha6, Sankar, Hariharan V.7, Bhavani, Gandham SriLakshmi8, Girisha, Katta M.8, Phadke, Shubha Rao9, Ranganath, Prajnya3,10, Bashyam, Murali Dharan1, bashyam@cdfd.org.in
Source: American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p788-805, 18p
Database: Applied Science & Technology Source
Description
ISSN:15524825
DOI:10.1002/ajmg.a.62579