Genetic & Genomic MedicineClinical GeneticsPeer-reviewed
Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome
Ipek Ilgin Gönenç, Nursel H Elcioglu, Carolina Martínez Grijalva…·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.
17 citations