Renal-coloboma syndrome: report of a novel PAX2 gene mutation

PURPOSE: To report a novel sporadic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia. DESIGN: Observational case report and experimental study. METHODS: Mutational analysis of the PAX2 gene in a family. RESULTS: A 9-year-old patient with a hi...

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Veröffentlicht in:	American journal of ophthalmology 2001-12, Vol.132 (6), p.910-914
Hauptverfasser:	Chung, Gary W., Edwards, Albert O., SchimentiI, Lisa A., Manligas, Glenda S., Zhang, Yao-hua, Ritter, Robert
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences Child Coloboma DNA Mutational Analysis DNA-Binding Proteins - genetics Exons - genetics Eye Abnormalities - genetics Female Gene Deletion Humans Kidney - abnormalities Malformations of the eye Medical sciences Mutation Ophthalmology Optic Nerve - abnormalities PAX2 Transcription Factor Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Syndrome Transcription Factors - genetics
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