A novel PITX2 mutation in non-syndromic orodental anomalies.
Sign Up to like & getrecommendations! Published in 2018 at "Oral diseases"
DOI: 10.1111/odi.12804
Abstract: OBJECTIVE To identify orodental characteristics and genetic aetiology of a family affected with non-syndromic orodental anomalies. SUBJECTS AND METHODS Physical and oral features were characterised. DNA was collected from an affected Thai family. Whole-exome sequencing… read more here.
Keywords: orodental anomalies; non syndromic; novel pitx2; pitx2 mutation ... See more keywords
Early-Onset Glaucoma in egl1 Mice Homozygous for Pitx2 Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10030516
Abstract: Mutations in PITX2 cause Axenfeld–Rieger syndrome, with congenital glaucoma as an ocular feature. The egl1 mouse strain carries a chemically induced Pitx2 mutation and develops early-onset glaucoma. In this study, we characterized the glaucomatous features… read more here.
Keywords: glaucoma; early onset; pitx2 mutation; egl1 mice ... See more keywords