Research Articles
The Tiny Typo in the Genetic Code: Unraveling a Child's Kidney Mystery
Discover how a single missing letter in DNA causes Alport Syndrome and how genetic detectives identified the frameshift deletion in the COL4A5 gene.
The Genetic Whodunnit: How a Single Letter Change in DNA Causes Kidney Acidosis
Discover how a novel splice-site mutation in the ATP6V0A4 gene causes distal renal tubular acidosis in two brothers from a consanguineous Tunisian family.
The Genetic Key to a Rare Disease: Unlocking the Secrets of Papillon-Lefèvre Syndrome
Exploring the complete homozygous deletion of CTSC gene in an Iranian family with Papillon-Lefèvre syndrome, a rare genetic disorder affecting skin and teeth.