Associated Papers
Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
Theil AF et al.
Embo Molecular Medicine, 2023
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
A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom.
Zhou YK et al.
Bmc Medical Genetics, 2018
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.
Pode-Shakked B et al.
European Journal of Medical Genetics, 2015
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