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Region Hovedstaden - en del af Københavns Universitetshospital
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Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

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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 diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.
OriginalsprogEngelsk
TidsskriftEuropean Journal of Human Genetics
Vol/bind17
Udgave nummer12
Sider (fra-til)1527-39
Antal sider13
ISSN1018-4813
DOI
StatusUdgivet - 2009

ID: 36604216