Clinical and genetic characterization of DNM1l-related disorders: insights into genotype–phenotype correlations

ObjectiveThis study aimed to characterize the clinical and genetic spectrum of dynamin 1-like gene (DNM1l)-associated disorders and to investigate genotype-phenotype correlations in the largest integrated cohort reported to date.MethodsClinical and genetic data from eleven Chinese patients with DNM1...

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Bibliographic Details

Published in:	Frontiers in Pediatrics
Main Authors:	Xu Manting, Li Hua, Huang Sheng, Han Xiaodi, Sun Dan, Fang Fang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-10-01
Subjects:	DNM1l genotype-phenotype correlations RHADS protein domain EEG biomarker
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2025.1672700/full