Article
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
Proceedings of the National Academy of Sciences of the United States of America - 1 Nov 2005
Armanios Mary, Chen Jiunn-Liang, Chang Yen-Pei Christy, Brodsky Robert A, Hawkins Anita, Griffin Constance A, Eshleman James R, Cohen Alan R, Chakravarti Aravinda, Hamosh Ada, Greider Carol W
Abstract excerpt
Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from this disease is usually due to bone marrow failure, but idiopathic pulmonary fibrosis and an increased cancer predisposition also occur. Families with autosomal dominant...
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