Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita

Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita

Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC en...

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Bibliographic Details
Main Authors: Benjaporn Panichareon, Thanawat Seedapan, Wanna Thongnoppakhun, Chanin Limwongse, Manop Pithukpakorn, Thawornchai Limjindaporn
Format: Article
Language:English
Published: Karger Publishers 2015-08-01
Series:Case Reports in Dermatology
Subjects:
Dyskeratosis congenita
TINF2
Mutation
Direct sequencing
Online Access:http://www.karger.com/Article/FullText/439042

Internet

http://www.karger.com/Article/FullText/439042

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