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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305643/
https://ncbi.nlm.nih.gov/pubmed/30393977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.495
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