Article
Spectrum of Alport syndrome in an Indian cohort.
Pediatric nephrology (Berlin, Germany) - 1 Feb 2025
Yadav Menka, Jadon Trishla, Singh Geetika, Devi Kshetrimayum Ghanapriya, Chandan Monica, Khandelwal Priyanka, Meena Jitendra, Geetha Thenral S, Faruq Mohammed, Hari Pankaj, Sinha Aditi, Bagga Arvind
Abstract excerpt
BACKGROUND: Next-generation sequencing has enabled non-invasive diagnosis of type IV collagen disease in clinical settings other than the typical presentation of Alport syndrome (AS). METHODS: We reviewed the clinical and histological records of children diagnosed with Alport syndrome based on next-generation sequencing. Variants on clinical exome sequencing were categorized using ACMG 2015 criteria. RESULTS:...
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