Article

Neanderthal-derived variants shape craniofacial enhancer activity at a human disease locus

2024-09-25

Abstract excerpt

Facial appearance is one of the most variable morphological traits in humans, influenced by both rare and common genetic variants that can impact facial form between individuals and in disease. Deletion of an enhancer cluster 1.45 megabases upstream of the SOX9 gene (EC1.45) results in Pierre Robin sequence, a human craniofacial disorder characterised by underdevelopment of the lower jaw and frequently associated...

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Literature Corpus work: 3289bdc7-5d80-5774-b412-7a21b1506e40
DOI: 10.1101/2024.09.24.614243

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