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Levin Alex V

πŸ‡΄πŸ‡² Golisano Children's Hospital
ORCIDOpenAlex11 articles in GJC

11 articles in GJC

10.

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.

Lines Matthew A, Kozlowski Kathy, Kulak Stephen C, Allingham R Rand, HΓ©on Elise, Ritch Robert et al.

Invest Ophthalmol Vis SciMar 200457 citationsObservational Study

This study found PITX2 gene deletions are as frequent as point mutations in Axenfeld-Rieger malformations, causing similar disease. Quantitative PCR can efficiently detect these deletions, improving diagnosis.

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