Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.

Antonio R PorrasMarshal SummarMarius George Linguraru

Published in: Molecular genetics & genomic medicine (2021)

Our facial analysis provided for the first time quantitative reference facial metrics for the differential diagnosis Noonan and Williams-Beuren syndromes in diverse populations.

Keyphrases

soft tissue
high resolution
high throughput
genetic diversity
mass spectrometry