Skip to main content

Navigation group

Type at least 3 characters
9,282 articles

Articles

Original Research

Published on 12 Jul 2023

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

in Genetics of Common and Rare Diseases

  • Feda E. Mohamed
  • Mohammad A. Ghattas
  • Taleb M. Almansoori
  • Mohammed Tabouni
  • Ibrahim Baydoun
  • Praseetha Kizhakkedath
  • Anne John
  • Hiba Alblooshi
  • Qudsia Shaukat
  • Fatma Al-Jasmi
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
Frontiers in Pediatrics
doi 10.3389/fped.2023.1183574
  • 2,683 views