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

• Hoofdauteurs: Benjaporn Panichareon (Auteur), Thanawat Seedapan (Auteur), Wanna Thongnoppakhun (Auteur), Chanin Limwongse (Auteur), Manop Pithukpakorn (Auteur), Thawornchai Limjindaporn (Auteur)
• Formaat: Boek
• Gepubliceerd in: Karger Publishers, 2015-08-01T00:00:00Z.
• Onderwerpen: article
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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...