Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome
Ipek Ilgin Gönenç, Nursel H Elcioglu, Carolina Martínez Grijalva, Seda Aras, Nadine Großmann, Inka Praulich, Janine Altmüller, Silke Kaulfuß, Yun Li, Peter Nürnberg, Peter Burfeind, Gökhan Yigit, Bernd Wollnik
This study reports clinical and molecular findings of eight Bloom syndrome patients, identifying BLM and RMI1 mutations and highlighting phenotypic differences between BLM- and RMI1-associated cases.
Clinical Genetics · Feb 26, 2022Peer-reviewedGenetic & Genomic Medicine