Dysplazje ektodermalne – mechanizmy molekularne odpowiedzialne za występowanie najczęstszych zespołów chorobowych
Journal: Postępy Biochemii
Year: 2021

Ectodermal dysplasias are a wide group of genetic disorders characterised by clinical symptoms in ectodermal derivatives (most frequently teeth, hair, nails and sweat glands). There is a number of genes, which, if mutated, can cause the specified phenotype. The molecular basis of many ectodermal dysplasias have been investigated. The phenotype often results from the imparied communication in molecular pathways important in embryonic morphogenesis or disturbed function of protein complexes involv