Nursel H Elcioglu

The paper identifies a KIAA0586 c.1815G>A founder allele associated with short-rib polydactyly syndrome type IV in Romani families and reports its higher frequency in Hungarian Romani individuals.

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.