Article
Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.
Human molecular genetics - 15 Sept 2017
Protas Meredith E, Weh Eric, Footz Tim, Kasberger Jay, Baraban Scott C, Levin Alex V, Katz L Jay, Ritch Robert, Walter Michael A, Semina Elena V, Gould Douglas B
Abstract excerpt
Mutations in FOXC1 and PITX2 constitute the most common causes of ocular anterior segment dysgenesis (ASD), and confer a high risk for secondary glaucoma. The genetic causes underlying ASD in approximately half of patients remain unknown, despite many of them being screened by whole exome sequencing. Here, we performed whole genome sequencing on DNA from two affected individuals from a family with dominantly...
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