Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome

نویسندگان

  • Seung Joon Oh
  • Song-Ee Kim
  • Sang Eun Lee
  • Soo-Chan Kim
چکیده

Vol. 28, No. 4, 2016 503 Received May 8, 2015, Revised July 25, 2015, Accepted for publication July 27, 2015 Corresponding author: Soo-Chan Kim, Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Korea. Tel: 82-2-2019-3362, Fax: 82-2-3463-6136, E-mail: [email protected] This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons. org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © The Korean Dermatological Association and The Korean Society for Investigative Dermatology Fig. 1. Clinical features of the patient. (A, B) Poikiloderma on the face and neck. (C) Atrophic change on the dorsal aspect of hand. (D) Skin atrophy with resolving blisters on the leg. http://dx.doi.org/10.5021/ad.2016.28.4.503

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عنوان ژورنال:

دوره 28  شماره 

صفحات  -

تاریخ انتشار 2016