When pancreatic KATP channels malfunction, insulin is released unchecked and blood sugar falls, bringing dizziness, sweating and confusion. ABCC8 results confirm it.
Dry, scaly skin, recurrent infections and immune dysregulation mark ARCI, where ALOX12B mutations disturb the skin's barrier function and lipid metabolism.
Brain growth stalls when a homozygous MCM7 mutation disrupts DNA replication, producing the small head circumference and intellectual disability seen in MCPH.
Myopia, retinal detachment, hearing loss and joint pain arise when COL9A2 changes disrupt collagen. Carrier testing and eye and ear checks follow a diagnosis.
Explore how genetic testing aids in the early diagnosis and management of Baraitser-Winter syndrome, a rare genetic disorder with distinctive symptoms and challenges.
When low blood calcium accompanies the sodium reabsorption defect of Bartter syndrome, pinpointing the causative mutation can shape treatment, monitoring and counseling.
Loss of empathy, impulsivity and impaired social cognition follow nerve cell loss in the frontal and temporal lobes, where tau or TDP-43 protein deposits build up.
Seizures starting between 3 and 12 months usually stop by age two, and whole-exome sequencing in seven patients identified a novel PRRT2 variant behind the condition.