Article
Shared genetic basis and structure of syndromic and normal facial variation.
American journal of human genetics - 3 Sept 2026
Aponte J David, Da Silva Cassidy, Hoskens Hanne, Goovaerts Seppe, Vanneste Michiel, Devine Jay, Caine Katherine, Buchner Beaudet Alexander, Luchman H Artee, Weinberg Seth M, Peeters Hilde, Klein Ophir D, Marcucio Ralph S, Innes A Micheil, Claes Peter, Spritz Richard A, Bernier Francois P, Hallgrímsson Benedikt
Abstract excerpt
The question of how gene mutations of large effect and common variants of small effect relate to phenotypic variation dates from the origins of genetics. Mendelian diseases result from rare germline variants with major effects, while complex traits are associated with multiple, mostly common variants of small effect. High-dimensional phenotypes, such as facial shape, can shed new light on this age-old dichotomy,...
Read the complete abstract on PubMedTopics
- Humans
- Face
- Phenotype
- Syndrome
- Female