AuthorsKeller, Rachel B.
Gagne, Katelyn E.
Usmani, G. Naheed
Asdourian, George K.
Williams, David A.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Hemic and Lymphatic Diseases
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AbstractDyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by mutations in seven genes involved in telomere biology, with approximately 50% of cases remaining genetically uncharacterized. We report a patient with classic DC carrying a compound heterozygous mutation in the CTC1 (conserved telomere maintenance component 1) gene, which has recently implicated in the pleiotropic syndrome Coats plus. This report confirms a molecular link between DC and Coats plus and expands the genotype-phenotype complexity observed in telomere-related genetic disorders. Pediatr Blood Cancer 2012;59:311-314. (c) 2012 Wiley Periodicals, Inc.
SourcePediatr Blood Cancer. 2012 Aug;59(2):311-4. doi: 10.1002/pbc.24193. Epub 2012 Apr 24. Link to article on publisher's site
Permanent Link to this Itemhttp://hdl.handle.net/20.500.14038/43779
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