DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.
Publication/Presentation Date
4-6-2026
Abstract
PURPOSE:
METHODS: Phenotypic data was manually curated from 95 individuals from multiple sources and harmonized using the Human Phenotype Ontology framework.
RESULTS: Disease-causing variants in
CONCLUSION: A harmonized cohort of individuals with
Published In/Presented At
Harrison, A. G., Ganesan, S., Xie, H. M., Parthasarathy, S., McKee, J. L., Magielski, J. H., Thalwitzer, K., Lobo, R., Pendziwiat, M., van Baalen, A., Muhle, H., Poduri, A., Mo, A., Wiegand, G., Õunap, K., Bruel, A. L., Scala, M., Capra, V., Ruggiero, S. M., & Helbig, I. (2026). DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity. medRxiv : the preprint server for health sciences, 2026.04.05.26350183. https://doi.org/10.64898/2026.04.05.26350183
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
42006794
Department(s)
Department of Pediatrics
Document Type
Article