How is the FERMT1 Gene Linked to Neonatal Disorders?
Mutations in the FERMT1 gene are primarily associated with a rare autosomal recessive disorder known as Kindler Syndrome. This condition manifests with a range of clinical symptoms that can appear shortly after birth. Affected neonates often present with skin fragility, blistering, and other dermatological abnormalities. These symptoms can lead to significant complications in the neonatal period, including increased susceptibility to infections and difficulties in wound healing.
