نقص در این گیرنده موجب بروز «کندرودیسپلازی متافیزی یانسن» (JMC)، «کندرودیسپلازی بلومستراند» (BOCD) و «اِنکندروماتوز»[۶] و «اختلال اولیه رشد دندان» می گردد.[۷]
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