Publications by authors named "Dolores Gonzales Moron"
Article Synopsis
- RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is a genetic disorder leading to neurological issues, dental problems, and hormonal deficiencies, caused by mutations in specific genes.
- A study evaluated the craniofacial features of 31 POLR3-HLD patients, revealing common abnormalities like a flat midface, smooth philtrum, and pointed chin, with different features linked to specific gene mutations.
- The findings highlight that craniofacial abnormalities are prevalent in POLR3-HLD, offering detailed insights into the dysmorphic traits associated with the various genetic variants involved.
