Associated Papers
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.
AlQudairy H et al.
Orphanet Journal of Rare Diseases, 2025
40781329 (PubMed )
Supplement: 13023_2025_3810_MOESM2_ESM.xlsx › Supp._Table_1
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
Pathophysiological Roles of Abnormal Axon Initial Segments in Neurodevelopmental Disorders.
Fujitani M et al.
Cells, 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.
Buelow M et al.
European Journal of Human Genetics : Ejhg, 2021
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Pehlivan D et al.
American Journal of Human Genetics, 2019
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