Associated Papers
Dominant Action of CLCN4 Neurodevelopmental Disease Variants in Heteromeric Endosomal ClC-3/ClC-4 Transporters.
Tettey-Matey A et al.
Cells, 2025
Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.
He H et al.
Journal of Neurology, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE et al.
Molecular Psychiatry, 2023
Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.
Li S et al.
Frontiers in Neurology, 2023
Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy.
Guzman RE et al.
Frontiers in Molecular Neuroscience, 2022
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE et al.
Molecular Psychiatry, 2018
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