Stratification of Phenotypes in Childhood-Onset

Authors

• Giulia S Porcari
• Rudmila N Rashid
• Caitlyn A Mulvihill
• Lauren A Beslow
• Holly A Dubbs
• Erica M Schindewolf
• Michael C Kaufman
• Alexander K Gonzalez
• Juliana S Gebb
• Sonika Agarwal
• Matthew T Whitehead
• Ana G Cristancho

Publication/Presentation Date

6-1-2026

Abstract

BACKGROUND AND OBJECTIVES: Variants in

METHODS: This was a retrospective cohort study of pediatric patients with variants in

RESULTS: Of the 44 patients meeting inclusion criteria, 33 had variants in

DISCUSSION: The pediatric phenotype of

Volume

12

Issue

3

First Page

200386

Last Page

200386

ISSN

2376-7839

Published In/Presented At

Porcari, G. S., Rashid, R. N., Mulvihill, C. A., Beslow, L. A., Dubbs, H. A., Schindewolf, E. M., Kaufman, M. C., Gonzalez, A. K., Gebb, J. S., Agarwal, S., Whitehead, M. T., & Cristancho, A. G. (2026). Stratification of Phenotypes in Childhood-Onset COL4A1/COL4A2-Related Disorders Based on Age of Presentation. Neurology. Genetics, 12(3), e200386. https://doi.org/10.1212/NXG.0000000000200386

Disciplines

Medicine and Health Sciences | Pediatrics

PubMedID

42099677

Department(s)

Department of Pediatrics

Document Type

Article