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.