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

• Main Authors: Benjaporn Panichareon (Author), Thanawat Seedapan (Author), Wanna Thongnoppakhun (Author), Chanin Limwongse (Author), Manop Pithukpakorn (Author), Thawornchai Limjindaporn (Author)
• Format: Book
• Published: Karger Publishers, 2015-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...