A new locus underlying Auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
<p><strong>Background:</strong> Auriculocondylar Syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations. To date, pathogenic variants have been identified i...
Main Authors: | , , , , , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
BMJ Publishing Group
2021
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