Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome - Top-Institutions - MDSpire

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome

  • By

  • Xue Wang

  • Linlin Dong

  • Hui Qiu

  • Beibei Wang

  • Sanfeng Wang

  • Weiran Zhou

  • June 19, 2026

  • 0 min

Share

Top Institutions in Pediatrics

Brief introduction explaining scope and methodology.

  • #1

    Columbia University Irving Medical Center/NewYork‑Presbyterian Hospital
    Columbia University Irving Medical Center/NewYork‑Presbyterian Hospital

    New York, New York

    Key Differentiators

    • Genetics
    • Nephrology

  • #2

    University of Minnesota Medical School and M Health Fairview
    University of Minnesota Medical School and M Health Fairview

    Minneapolis, Minnesota

    Key Differentiators

    • Genetics
    • Pediatrics

Original Source(s)

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome

  • by Xue Wang, Linlin Dong, Hui Qiu, Beibei Wang, Sanfeng Wang, Weiran Zhou

  • June 19, 2026

Related Content

Correction: Current status and influencing factors of adolescents’ awareness of functional gastrointestinal disorders and health education needs: a nationwide cross-sectional study

Multi-modal deep learning model for bipolar depression adolescents with verbal auditory hallucinations

Combined Analysis by Peak and Submaximal Exercise Parameters Delineates Underlying Mechanisms of Poor Exercise Performance in Fontan Patients