Condition: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
rs370384522
in
CDCA7
gene and
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
PMID 26216346
2015 Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.