Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population
Michiel Vanneste, Hanne Hoskens, Seppe Goovaerts, Harold S. Matthews, Jay Devine, Jose David Aponte, Joanne B. Cole, Mark D. Shriver, Mary L. Marazita, Seth Michael Weinberg, Susan Walsh, Stephen Richmond, Ophir D. Klein, Richard A. Spritz, Hilde Peeters, , Peter D. Claes
The paper identifies genomic loci associated with achondroplasia-like facial variation in the general population using a syndrome-informed phenotyping approach.
Nature Communications · Dec 2, 2024Peer-reviewedGenetics