The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families
نویسندگان
چکیده
منابع مشابه
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affecte...
متن کاملHomozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome
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...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2015
ISSN: 0022-202X
DOI: 10.1038/jid.2015.9