Article
The genetics and clinical manifestations of telomere biology disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2010
Savage Sharon A, Bertuch Alison A
Abstract excerpt
Telomere biology disorders are a complex set of illnesses defined by the presence of very short telomeres. Individuals with classic dyskeratosis congenita have the most severe phenotype, characterized by the triad of nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. More significantly, these individuals are at very high risk of bone marrow failure, cancer, and pulmonary fibrosis. A mutation in one...
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