Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
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
Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.
Heller ER et al.
The Journal of Investigative Dermatology, 2015
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
Botta E et al.
Human Mutation, 2007
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