Condition: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
rs879253733
in
HELLS
gene and
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
PMID 26216346
2015 Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.