Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
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ABSTRACT:
SUBMITTER: Tumer Z
PROVIDER: S-EPMC2987033 | biostudies-literature | 2009 Dec
REPOSITORIES: biostudies-literature
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Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Zeynep Z Bach-Holm Daniella D
European journal of human genetics : EJHG 20090610 12
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diag ...[more]
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