Ontology highlight
ABSTRACT:
SUBMITTER: Yun JW
PROVIDER: S-EPMC3756242 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Yun Jae Won JW Cho Hyun-Kyung HK Oh Soo-Young SY Ki Chang-Seok CS Kee Changwon C
Annals of laboratory medicine 20130808 5
Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel PITX2 mutation (c.300_301delinsT) in 2 Korean patients from a family with ARS. We expand the spectrum of PITX2 mutations and, to the best of our knowledge, this is the first confirmed family of PITX2-related ARS in ...[more]