Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array ‐based detection rate

ConclusionsOur retrospective study resulted in confirming the high detection rate of CMA and indicated new clinical markers useful to optimize their inclusion in the diagnostic and rehabilitative path of patients with developmental phenotypes.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1056?af=R

Source: Molecular Genetics & Genomic Medicine - December 17, 2019 Category: Genetics & Stem Cells Authors: Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico C Tags: ORIGINAL ARTICLE Source Type: research