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...

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Bibliographic Details
Main Authors: Romanelli Tavares, VL, Guimarães-Ramos, S, Zhou, Y, Masotti, C, Ezquina, S, Moreira, D, Buermans, H, Freitas, R, den Dunnen, J, Twigg, S, Passos-Bueno, MR
Format: Journal article
Language:English
Published: BMJ Publishing Group 2021