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TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita

✍ Scribed by Sharon A. Savage; Neelam Giri; Gabriela M. Baerlocher; Nick Orr; Peter M. Lansdorp; Blanche P. Alter

Book ID: 113422415
Publisher: American Society of Human Genetics
Year: 2008
Tongue: English
Weight: 784 KB
Volume: 82
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2007.10.004

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Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy 1,2 . X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is