Article

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population

2023-12-08

Abstract excerpt

Human craniofacial shape is highly variable yet highly heritable with 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 in the nor...

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Literature Corpus work: eee9a46f-0cc4-50a5-a596-fd58e9660c66
DOI: 10.1101/2023.12.07.570544

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