Life Sciences → Biochemistry, Genetics and Molecular Biology → Genetics
Genetic and rare skin diseases.
This cluster of papers focuses on genomic rearrangement disorders in skin diseases, particularly related to mutations in NEMO, ATP2C1, and other genes affecting NF-?B activation and calcium pump function. It covers a wide range of conditions such as incontinentia pigmenti, Hailey-Hailey disease, epidermal nevus syndromes, and Darier disease, providing insights into the molecular basis, clinical manifestations, and potential therapeutic targets for these disorders.
37.8K works worldwide229.4K citations
Genomic RearrangementSkin DiseasesNEMO MutationsATP2C1 MutationsNF-?B ActivationEpidermal Nevus SyndromesSegmental ManifestationCalcium Pump DisordersIncontinentia PigmentiDarier Disease
