Associated Papers
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
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Nakabayashi K et al.
American Journal of Human Genetics, 2005
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