Condition: AURICULOCONDYLAR SYNDROME 2


rs387907179 in PLCB4 gene and AURICULOCONDYLAR SYNDROME 2 PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.