May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
1 citations,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
4 citations,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.