Publications by authors named "Itamar Jobani"
Am J Hum Genet
April 2019
Article Synopsis
- The study highlights the use of machine-learning algorithms to identify genetic disorders by analyzing facial photographs, revealing potential applications beyond known phenotypes.
- Researchers identified two individuals with a novel genetic disorder linked to a specific mutation in the LEMD2 gene, displaying similar progeria-like facial features and unique physical and neurological anomalies.
- The findings suggest that artificial intelligence can aid in discovering new genetic disorders by clustering similar syndromes, indicating a common genetic cause, while also noting that the prognosis for this condition is better than classic Hutchinson-Gilford progeria.
