Associated Papers
A novel MPLKIP-variant in three Finnish patients with non-photosensitive trichothiodystrophy type 4.
Strang-Karlsson S et al.
American Journal of Medical Genetics. Part A, 2021
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.
Heller ER et al.
The Journal of Investigative Dermatology, 2015
Pollitt syndrome patients carry mutation in TTDN1.
Swagemakers SM et al.
Meta Gene, 2014
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