Article
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.
Cell death & disease - 17 Apr 2020
Bergstrand Sofie, Böhm Stefanie, Malmgren Helena, Norberg Anna, Sundin Mikael, Nordgren Ann, Farnebo Marianne
Abstract excerpt
Approximately half of all cases of Hoyeraal-Hreidarsson syndrome (HHS), a multisystem disorder characterized by bone marrow failure, developmental defects and very short telomeres, are caused by germline mutations in genes related to telomere biology. However, the varying symptoms and severity of the disease indicate that additional mechanisms are involved. Here, a 3-year-old boy with HHS was found to carry...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.