Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation

• Main Authors: Yeliz Guven, Umut Altunoglu, Oya Aktoren, Zehra Oya Uyguner, Hulya Kayserili, Massupa Kaewkahya, Piranit Nik Kantaputra
• 格式: 雜誌
• 出版: 2018
• 主題: Biochemistry, Genetics and Molecular Biology; Medicine
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84899654194&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/53294
• 機構: Chiang Mai University

Turkish twin brothers affected with hereditary sensory and autonomic neuropathy type IV (HSAN IV) are reported. Their clinical findings were generally typical for HSAN IV. Interestingly they both had preserved periodontal sensation. Mutation analysis of the NTRK1 gene showed a homozygous c.2001C>...