The Genetic Landscape Of Alport Syndrome In India With Phenotypic Correlation
33/5/2019-TF/Rare/BMS
ICMR
March 12, 2020
March 11, 2023
Three Year
Alport Syndrome
etrospective and Prospective (2012 - 2021) Cross sectional Descriptive study
Quantitative data
Genetic diagnosis and comprehensive phenotypic correlation in patients suspected of Alport syndrome. Exploring the genetic landscape for additional genetic modifiers and protein modeling study
Alport syndrome, collagenopathy, next generation sequencing, typeIV collagen, electron microscopy
In clinical practice definitive genetic diagnosis of Alpert Syndrome with inheritance pattern will prevent the unnecessary use of immunosuppression, identify family members at risk including potential donors and direct genetic counseling for future pregnancies.
60,98,140/-
Dr. Geetika Singh/None/Renal and Urologic Pathology, AIIMS