Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India-Reference-Cited by-同舟云学术

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

Published:2021-12-04 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Chaudhary Ajay Kumar¹,Gholse Aishwarya²,Nagarajaram Hampapathalu Adimurthy²,Dalal Ashwin Bhikaji³,Gupta Neerja⁴,Dutta Atanu Kumar⁵^ORCID,Danda Sumita⁵^ORCID,Gupta Rekha⁶,Sankar Hariharan V.⁷,Bhavani Gandham SriLakshmi⁸,Girisha Katta M.⁸^ORCID,Phadke Shubha Rao⁹^ORCID,Ranganath Prajnya³¹⁰^ORCID,Bashyam Murali Dharan¹^ORCID

Affiliation:

1. Laboratory of Molecular Oncology Centre for DNA Fingerprinting and Diagnostics Hyderabad India

2. Laboratory of Computational Biology, Department of Systems and Computational Biology, School of Life Sciences University of Hyderabad Hyderabad India

3. Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India

4. Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences New Delhi India

5. Department of Clinical Genetics Christian Medical College and Hospital Vellore India

6. Department of Medical Genetics Mahatma Gandhi Medical College and Hospital Jaipur India

7. Department of Pediatrics SAT Hospital, Medical College Trivandrum India

8. Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education Manipal India

9. Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow India

10. Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad India

Funder

Department of Biotechnology, Ministry of Science and Technology, India

University of Hyderabad

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62579

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1. Molecular basis and genetics of hypohidrotic ectodermal dysplasias;Vavilov Journal of Genetics and Breeding;2023-11-02

2. Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases;Italian Journal of Dermatology and Venereology;2023-03

3. Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia;Children;2022-09-06