CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

BACKGROUND: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 (CTC1) gene. The CTC1 forms the telomeric capping complex, CST, which functions in telomere homeostasis...

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Detalles Bibliográficos
Autores principales: Sargolzaeiaval, Forough, Zhang, Jiaming, Schleit, Jennifer, Lessel, Davor, Kubisch, Christian, Precioso, Debora R., Sillence, David, Hisama, Fuki M., Dorschner, Michael, Martin, George M., Oshima, Junko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305643/
https://www.ncbi.nlm.nih.gov/pubmed/30393977
http://dx.doi.org/10.1002/mgg3.495

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305643/
https://www.ncbi.nlm.nih.gov/pubmed/30393977
http://dx.doi.org/10.1002/mgg3.495

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