Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. [electronic resource]
Producer: 19970430Description: 213-6 p. digitalISSN:- 0022-2593
- Child, Preschool
- Chromosome Aberrations -- genetics
- Chromosome Disorders
- Chromosomes, Human, Pair 10 -- genetics
- Chromosomes, Human, Pair 13 -- genetics
- Coloboma -- genetics
- DNA-Binding Proteins -- genetics
- Humans
- In Situ Hybridization, Fluorescence
- Kidney Diseases -- genetics
- Male
- Optic Nerve -- abnormalities
- PAX2 Transcription Factor
- Proteinuria
- Syndrome
- Transcription Factors -- genetics
- Translocation, Genetic -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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