Publications by authors named "Diana Jecan-Toader"
Front Pediatr
September 2024
Article Synopsis
- Alström disease is a rare genetic disorder linked to mutations in the ALMS1 gene, causing diverse issues across multiple organ systems, including heart and sensory problems, but with significant variability between patients.
- The case study focuses on a 4-month-old girl who showed symptoms like dilated cardiomyopathy and neurosensory deficits, prompting genetic testing that confirmed Alström syndrome.
- The findings highlight the challenges in linking specific genetic mutations to clinical symptoms, underscoring the need for more research on phenotype-genotype relationships in Alström disease.
