Article
Opposite effects on facial morphology due to gene dosage sensitivity.
Human genetics - 1 Sept 2014
Hammond Peter, McKee Shane, Suttie Michael, Allanson Judith, Cobben Jan-Maarten, Maas Saskia M, Quarrell Oliver, Smith Ann C M, Lewis Suzanne, Tassabehji May, Sisodiya Sanjay, Mattina Teresa, Hennekam Raoul
Abstract excerpt
Sequencing technology is increasingly demonstrating the impact of genomic copy number variation (CNV) on phenotypes. Opposing variation in growth, head size, cognition and behaviour is known to result from deletions and reciprocal duplications of some genomic regions. We propose normative inversion of face shape, opposing difference from a matched norm, as a basis for investigating the effects of gene dosage on...
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