4.5 Article

New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements

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Summary: Auriculocondylar syndrome (ACS) is an ultra-rare disorder caused by developmental defects of the first and second pharyngeal arches, with ACS2 being the most common subtype resulting from mutations in the PLCB4 gene. The diagnosis in an 8-year-old male patient was confirmed through whole-exome sequencing, deep targeted next-generation sequencing panel, and Sanger sequencing. ACS2 presents high phenotypic heterogeneity.

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