Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome
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Axenfeld-Rieger Syndrome (ARS) is an autosomal dominant condition with both ocular and non-ocular manifestations. ARS is primarily caused by coding variants at the PITX2 or FOXC1 loci, yet many cases still remain undiagnosed. Here we used whole-genome sequenci... ...
