ID
45486
Descrição
Principal Investigator: Ali G. Gharavi, MD, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA MeSH: Congenital Abnormalities,Chromosome Disorders,Kidney Diseases,Urologic Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000565 We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of the kidney and urinary tract are present in 3 to 7 per 1,000 births, accounting for 16% of birth defects. These malformations account for 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. Among these malformations, RHD represents a severe forms of disease with profound impact on long-term renal survival. We found that a significant fraction of RHD patients have a molecular diagnosis attributable to a genomic disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances.
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Versões (2)
- 14/11/2022 14/11/2022 - Dr. med. Lucy Kessler
- 13/12/2022 13/12/2022 - Kristina Keller
Titular dos direitos
Ali G. Gharavi, MD, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA
Transferido a
13 de dezembro de 2022
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000565 Copy Number Variation in Congenital Kidney Malformations
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Eligibility Criteria
C0680251 (UMLS CUI [1,2])