Publications by authors named "Alma Rosa Lopez"
Article Synopsis
- The study aimed to explore the link between the PCDH12 gene and brain calcifications in a child with a specific genetic variant and other adult patients with brain calcifications.
- Researchers conducted a CT scan on one child and analyzed DNA from 79 patients, including those with known familial brain calcifications and those with unknown causes.
- Findings revealed unique calcification patterns in the child that resemble those seen in in utero infections, and while 3 rare genetic variants were found in unrelated PFBC patients, no definitive connection to PCDH12 was established.
