Associated Papers
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Rothmund-Thomson syndrome, a disorder far from solved.
Martins DJ et al.
Frontiers in Aging, 2023
Rothmund-Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations.
Zirn B et al.
Skin Health and Disease, 2021
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Ajeawung NF et al.
American Journal of Human Genetics, 2019
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