Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing.

Chonnam Medical Journal Pub Date : 2022-01-01 Epub Date: 2022-01-25 DOI:10.4068/cmj.2022.58.1.66

Sang-Hyeon Won, Kyung-Nam Bae, Jin-Hwa Son, Kihyuk Shin, Hoon-Soo Kim, Hyun-Chang Ko, Byung-Soo Kim, Moon-Bum Kim

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Abstract

https://doi.org/10.4068/cmj.2022.58.1.66 C Chonnam Medical Journal, 2022 Chonnam Med J 2022;58:66-67 Corresponding Author: Moon-Bum Kim Department of Dermatology, Pusan National University Hospital, 179 Gudeok-ro, Seo-gu, Busan 49241, Korea Tel: +82-51-240-7338, Fax: +82-51-245-9467, E-mail: drkmp@hanmail.net Article History: Received November 10, 2021 Revised December 14, 2021 Accepted December 15, 2021 FIG. 1. Erythematous to purpuric scarring and milia on both lower legs, elbows, and the dorsa of hands and feet (A-E). Nail dystrophy on both fingernails and toenails (D, E). Dominant Dystrophic Epidermolysis Bullosa with a Mutation in COL7A1 Confirmed by Diagnostic Exome Sequencing Sang-Hyeon Won, Kyung-Nam Bae, Jin-Hwa Son, Kihyuk Shin, Hoon-Soo Kim, Hyun-Chang Ko, Byung-Soo Kim, and Moon-Bum Kim* Department of Dermatology, School of Medicine, Pusan National University, Biomedical Research Institute, Pusan National University Hospital, Busan, Korea

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