Associated Papers
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.
Mohamed FE et al.
Frontiers in Pediatrics, 2023
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
Conroy J et al.
Journal of Human Genetics, 2016
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Damseh N et al.
Journal of Medical Genetics, 2015
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.
Fonseca AC et al.
Molecular Cytogenetics, 2015
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