Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome

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 th...

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Detalles Bibliográficos
Autores principales: Bergstrand, Sofie, Böhm, Stefanie, Malmgren, Helena, Norberg, Anna, Sundin, Mikael, Nordgren, Ann, Farnebo, Marianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7165179/
https://www.ncbi.nlm.nih.gov/pubmed/32303682
http://dx.doi.org/10.1038/s41419-020-2421-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7165179/
https://www.ncbi.nlm.nih.gov/pubmed/32303682
http://dx.doi.org/10.1038/s41419-020-2421-4

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