ID
45486
Descripción
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.
Link
Palabras clave
Versiones (2)
- 14/11/22 14/11/22 - Dr. med. Lucy Kessler
- 13/12/22 13/12/22 - Kristina Keller
Titular de derechos de autor
Ali G. Gharavi, MD, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA
Subido en
13 dicembre 2022
DOI
Para solicitar uno, por favor iniciar sesión.
Licencia
Creative Commons BY 4.0
Comentarios del modelo :
Puede comentar sobre el modelo de datos aquí. A través de las burbujas de diálogo en los grupos de elementos y elementos, puede agregar comentarios específicos.
Comentarios de grupo de elementos para :
Comentarios del elemento para :
Para descargar modelos de datos, debe haber iniciado sesión. Por favor iniciar sesión o Registrate gratis.
dbGaP phs000565 Copy Number Variation in Congenital Kidney Malformations
Similar models
Eligibility Criteria
C0680251 (UMLS CUI [1,2])