PITX2
MIM.601542 4q25-q26
Pathology
germline mutations in
- Rieger syndrome (MIM.180500)
- iridogoniodysgenesis syndrome type 2 (MIM.137600)
- Peters anomaly (MIM.604229)
- umbilical anomalies
- cardiac anomalies
- ring dermoid of the cornea
References
Mutation in PITX2 is associated with ring dermoid of the cornea. Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, Zhang Z, Xia J. J Med Genet. 2004 Dec;41(12):e129. PMID: #15591271#