Biallelic Mutations in WRAP53 Result in Dysfunctional Telomeres, Cajal Bodies and DNA Repair, Thereby Causing Hoyeraal-Hreidarsson Syndrome

Authors Sofie Bergstrand , Stefanie Böhm , Helena Malmgren  , Anna Norberg , Mikael Sundin  , Ann Nordgren  , Marianne Farnebo  
Details Sofie Bergstrand et al; Cell Death Dis; 2020;
DOI 10.1038/s41419-020-2421-4
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Jill Bouchard
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Jill Bouchard
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Here’s some interesting work linking defects in Cajal bodies to a rare genetic disorder causing very early death in males.