Refining nosology by modelling variation among facial phenotypes: the RASopathies

Conclusions We established an approach that can be used in the future to quantify variations in facial phenotypes between and within clinical and molecular diagnoses to objectively define and support clinical nosologies.

http://jmg.bmj.com/cgi/content/short/60/3/285?rss=1

Source: Journal of Medical Genetics - February 23, 2023 Category: Genetics & Stem Cells Authors: Matthews, H., Vanneste, M., Katsura, K., Aponte, D., Patton, M., Hammond, P., Baynam, G., Spritz, R., Klein, O. D., Hallgrimsson, B., Peeters, H., Claes, P. Tags: Phenotypes Source Type: research