Article
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
Human molecular genetics - 20 Apr 2023
Unoki Motoko, Velasco Guillaume, Kori Satomi, Arita Kyohei, Daigaku Yasukazu, Yeung Wan Kin Au, Fujimoto Akihiro, Ohashi Hirofumi, Kubota Takeo, Miyake Kunio, Sasaki Hiroyuki
Abstract excerpt
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is in most cases caused by mutations in either DNA methyltransferase (DNMT)3B, zinc finger and BTB domain containing 24, cell division cycle associated 7 or helicase lymphoid-specific. However, the causative genes of a few ICF patients remain unknown. We, herein, identified ubiquitin-like with plant homeodomain and really interesting...
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