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 a...

por Mohamed, Feda E., Ghattas, Mohammad A., Almansoori, Taleb M., Tabouni, Mohammed, Baydoun, Ibrahim, Kizhakkedath, Praseetha, John, Anne, Alblooshi, Hiba, Shaukat, Qudsia, Al-Jasmi, Fatma
Publicado 2023