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
Feda E. Mohamed(United Arab Emirates University), Fatma Al‐Jasmi(United Arab Emirates University), Praseetha Kizhakkedath(Institut thématique Génétique, génomique et bioinformatique), Mohammad A. Ghattas(Al Ain University), Mohammed Tabouni(United Arab Emirates University), Ibrahim Baydoun(École Normale Supérieure Paris-Saclay), Qudsia Shaukat(Tawam Hospital), Hiba Alblooshi(United Arab Emirates University), Anne John(United Arab Emirates University), Taleb M. Almansoori(United Arab Emirates University)
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