Article
A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.
Cytogenetic and genome research - 1 Jan 2017
Maldžienė Živilė, Preikšaitienė Eglė, Ignotienė Salomėja, Kapitanova Natalija, Utkus Algirdas, Kučinskas Vaidutis
Abstract excerpt
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to...
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