Article
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
Human mutation - 1 Jan 1999
Schimmenti L A, Shim H H, Wirtschafter J D, Panzarino V A, Kashtan C E, Kirkpatrick S J, Wargowski D S, France T D, Michel E, Dobyns W B
Abstract excerpt
Renal-Coloboma syndrome, an autosomal dominant disorder characterized by colobomatous eye defects, vesicoureteral reflux, and abnormal kidneys, results from mutations in PAX2. The purpose of this study was to identify mutations in PAX2 and understand the associated patient phenotypes. We report a severely affected girl and a mildly affected mother and daughter, all of whom have PAX2 homoguanine tract (7 G)...
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