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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, Ghattas MA, Almansoori TM, Tabouni M, Baydoun I, Kizhakkedath P, John A, Alblooshi H, Shaukat Q, Al-Jasmi F. Mohamed FE, et al. Among authors: shaukat q. Front Pediatr. 2023 Jul 12;11:1183574. doi: 10.3389/fped.2023.1183574. eCollection 2023. Front Pediatr. 2023. PMID: 37502193 Free PMC article.