Refining nosology by modelling variation among facial phenotypes: The RASopathies

In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.

Citation:
Matthews H, Vanneste M, Katsura K, Baynam G, Hammond P, et al. Refining nosology by modelling variation among facial phenotypes: The RASopathies. J Med Genet. 2022

Keywords:
Diagnosis; Methods; Phenotype

Abstract:
In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.