Epidermolysis Bullosa Dystrophica Inversa: Case Report of a Novel Genetic Mutation, Involving a Rare Genodermatoses-Reference-Cited by-同舟云学术

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Epidermolysis Bullosa Dystrophica Inversa: Case Report of a Novel Genetic Mutation, Involving a Rare Genodermatoses

Published:2023 Issue:6 Volume:14 Page:884-886
ISSN:2229-5178
Container-title:Indian Dermatology Online Journal
language:en
Short-container-title:

Author:

Chakraborty Abhijit S.¹,Agarwal Rashmi²,Preethi Pellakuru¹,Chandrashekar BS³

Affiliation:

1. Postdctoral Fellow, Department of Pediatric Dermatology, Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka, India

2. Consultant Pediatric Dermatologist, Department of Pediatric Dermatology, Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka, India

3. Chief Dermatologist, Department of Dermatology, Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka, India

Publisher

Medknow

Subject

Infectious Diseases,Microbiology (medical),Dermatology,Immunology and Allergy

Reference6 articles.

1. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility;Has;Br J Dermatol,2020

2. Inversa dystrophic epidermolysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII;Chiaverini;J Invest Dermatol,2010

3. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen;van den Akker;J Med Genet,2011

4. Epidermolysis bullosa dystrophica inversa: A case report;Turan;J Clin Exp Invest,2012

5. Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein;Kahofer;Pediatr Dermatol,2003

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