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

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) are linked to SLC1A4 genetic variants since the first reported case in 2015. SLC1A4 encodes for the neutral amino acid transporter ASCT1 which is involved in the transportation of serine between astrocytes and neurons....

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Detalles Bibliográficos
Autores principales: Mohamed, Feda E., Ghattas, Mohammad A., Almansoori, Taleb M., Tabouni, Mohammed, Baydoun, Ibrahim, Kizhakkedath, Praseetha, John, Anne, Alblooshi, Hiba, Shaukat, Qudsia, Al-Jasmi, Fatma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10369183/
https://www.ncbi.nlm.nih.gov/pubmed/37502193
http://dx.doi.org/10.3389/fped.2023.1183574

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10369183/
https://www.ncbi.nlm.nih.gov/pubmed/37502193
http://dx.doi.org/10.3389/fped.2023.1183574

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