ID

45486

Descrizione

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.

collegamento

dbGap study = phs000565

Keywords

versioni (2)

1. 14/11/2022 14/11/2022 - Dr. med. Lucy Kessler
2. 13/12/2022 13/12/2022 - Kristina Keller

Titolare del copyright

Ali G. Gharavi, MD, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA

Caricato su

13 de dezembro de 2022

DOI

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Licenza