Novel compound heterozygous variants (c.971delA/c.542C > T) in <i>SLC1A4</i> causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.

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

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

Mohamed FE; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Ghattas MA; College of Pharmacy, Al Ain University, Al Ain, United Arab Emirates.
Almansoori TM; AAU Health and Biomedical Research Center, Al Ain University, Abu Dhabi, United Arab Emirates.
Tabouni M; Department of Radiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Baydoun I; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Kizhakkedath P; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
John A; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Alblooshi H; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Shaukat Q; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Al-Jasmi F; Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.