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XP140BR: 6-year-old girl with XP-J

This issue’s cover features companion papers that exemplify how understanding a rare disease can inform treatment strategies in other conditions.

Fassihi et al. and Nakazawa et al. report on the C-terminal deletion of transcription factor TFIIH-p52 subunit as a cause of xeroderma pigmentosum.

The cover art was created using PyMOL; TFIIH-p52 subunit (blue; C-terminus in white). Image credit: Keiko Itano.

https://www.jci.org/articles/view/195731 https://www.jci.org/articles/view/195732


1National Xeroderma Pigmentosum Service, Rare Disease Centre, Guy’s and St Thomas’ NHS Trust, London, United Kingdom.

2Department of Molecular Genetics, Nagoya University Graduate School of Medicine, Nagoya, Japan.

3Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.

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