PLCB4 and auriculocondylar syndrome: PLCB4, EDN, and EDNRA are closely related to human auriculocondylar syndrome (ACS, MIM #614669, #602483, #615706), which shares similar phenotypes with OAVS like ear and mandibular deformities (Rieder et al., 2012; Romanelli Tavares et al., 2017), suggesting a functional link with ITPR1.