Article
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.
Nature communications - 2 Dec 2024
Vanneste Michiel, Hoskens Hanne, Goovaerts Seppe, Matthews Harold, Devine Jay, Aponte Jose D, Cole Joanne, Shriver Mark, Marazita Mary L, Weinberg Seth M, Walsh Susan, Richmond Stephen, Klein Ophir D, Spritz Richard A, Peeters Hilde, Hallgrímsson Benedikt, Claes Peter
Abstract excerpt
Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation...
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