Clinical heterogeneity in epidermolysis bullosa simplex with plectin ( <scp> <i>PLEC</i> </scp> ) mutations—A study of six unrelated families from India-Reference-Cited by-同舟云学术

Clinical heterogeneity in epidermolysis bullosa simplex with plectin ( PLEC ) mutations—A study of six unrelated families from India

Published:2022-05-17 Issue:8 Volume:188 Page:2454-2459
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:

Vishwanathan Gurudatta Baraka¹,Srinivasa Manoj¹,Batrani Meenakshi²,Kubba Asha²,Ghosh Suparna¹,Gupta Divya¹³,Jayashankar Charitha¹,Rai Abhigna¹⁴,Jangond Ajith⁵,Inamadar Arun⁵,Hiremagalore Ravi¹³^ORCID

Affiliation:

1. Centre for Human Genetics Biotech Park Bangalore Karnataka India

2. Delhi Dermpath Laboratory New Delhi India

3. Department of Paediatrics and Dermatology Manipal Hospital Bangalore Karnataka India

4. Department of Dermatology Bangalore Medical College and Research Institute Bangalore Karnataka India

5. Department of Dermatology Sri BM Patil Medical College Hospital, BLDE Deemed to be University Vijayapura Karnataka India

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62781

Reference12 articles.

1. Plectin–intermediate filament partnership in skin, skeletal muscle, and peripheral nerve

2. Epidermolysis bullosa simplex withPLECmutations: new phenotypes and new mutations

3. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

4. Immunofluorescence Mapping of Antigenic Determinants within the Dermal-epidermal Junction in Mechanobullous Diseases

5. Nonsense-mediated decay approaches the clinic

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