Article
PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
European journal of human genetics : EJHG - 1 Dec 2012
Reis Linda M, Tyler Rebecca C, Volkmann Kloss Bethany A, Schilter Kala F, Levin Alex V, Lowry R Brian, Zwijnenburg Petra J G, Stroh Eliza, Broeckel Ulrich, Murray Jeffrey C, Semina Elena V
Abstract excerpt
Anterior segment dysgenesis (ASD) encompasses a broad spectrum of developmental conditions affecting anterior ocular structures and associated with an increased risk for glaucoma. Various systemic anomalies are often observed in ASD conditions such as Axenfeld-Rieger syndrome (ARS) and De Hauwere syndrome. We report DNA sequencing and copy number analysis of PITX2 and FOXC1 in 76 patients with syndromic or...
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