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Renal hypoplasia without optic coloboma associated with PAX2 gene deletion
- Source :
- Nephrology Dialysis Transplantation. 22:2076-2078
- Publication Year :
- 2007
- Publisher :
- Oxford University Press (OUP), 2007.
- Subjects :
- coloboma gene deletion haploinsufficiency PAX2 gene rare kidney diseases renal coloboma syndrome renal developmental anomalies renal hypodysplasia
medicine.medical_specialty
Pathology
PAX2
Gene Dosage
Kidney
PAX2 gene
Gene dosage
Internal medicine
medicine
Humans
Child
Transplantation
Coloboma
Chromosomes, Human, Pair 10
business.industry
PAX2 Transcription Factor
Optic Nerve
Gene deletion
medicine.disease
Renal hypoplasia
Hypoplasia
Endocrinology
Nephrology
Karyotyping
renal hypodysplasia
Female
Haploinsufficiency
business
Gene Deletion
Kidney disease
Subjects
Details
- ISSN :
- 14602385 and 09310509
- Volume :
- 22
- Database :
- OpenAIRE
- Journal :
- Nephrology Dialysis Transplantation
- Accession number :
- edsair.doi.dedup.....31e2af98ac05e664f480f3070e1c2726
- Full Text :
- https://doi.org/10.1093/ndt/gfm187