Publications by authors named "Jean Pierre Alteri"
Article Synopsis
- The study focuses on 23 children who had inconclusive results from newborn screening for Cystic Fibrosis (CF) over an average follow-up of 7.7 years.
- Using extensive genetic testing and various functional tests, researchers were able to reclassify the patients' diagnoses and identify genetic variants with differing clinical implications.
- The findings highlight the importance of using both genetic and functional assessments to evaluate the risk of developing CF or related disorders in newborns with unclear screening results.
