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- Title
A complex phenotype with cystic renal disease.
- Authors
Müller, D.; Klopocki, E.; Neumann, L. M.; Mundlos, S.; Taupitz, M.; Schulze, I.; Ropers, H-H.; Querfeld, U.; Ullmann, R.
- Abstract
The article presents a case study on comparative genomic hybridization of a 13-year-old boy having complex phenotype with cystic renal disease. The renal disease in childhood has been linked to the TCF2/HNF-1b abnormalities. The delation of additional gene located in the 1.4Mb region is possibly a genetic abnormality, and thestudy points out that the genetic mutations arise irrespective of family history. The author considers CGH as a powerful technique in treatment of renal disorder.
- Subjects
COMPARATIVE genomic hybridization; IN situ hybridization; PHENOTYPES; KIDNEY diseases; CYTOGENETICS; CYSTIC fibrosis in children
- Publication
Kidney International, 2006, Vol 70, Issue 9, p1656
- ISSN
0085-2538
- Publication type
Article
- DOI
10.1038/sj.ki.5001746