Refining nosology by modelling variation among facial phenotypes: the RASopathies.

Harold MatthewsMichiel VannesteKaitlin KatsuraDavid AponteMichael PattonPeter HammondGareth BaynamRichard SpritzOphir D KleinBenedikt HallgrimssonHilde PeetersPeter Claes

Published in: Journal of medical genetics (2022)

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.

Keyphrases

physical activity
soft tissue
single molecule