Molecular genetics in pediatric dermatology.
The field of pediatric dermatology continues to be enriched by the insights offered through molecular genetics. For some genetic skin disorders, including neurofibromatosis, tuberous sclerosis complex, and several forms of epidermolysis bullosa, genetic research has resulted in an evolving understanding of the relationship between genotype and phenotype, with the ability to predict some of the features of these disorders on the basis of the genetic defect. However, widespread use of molecular genetics for diagnostic testing of these disorders has not been possible because of genetic heterogeneity, limited availability, and reduced sensitivity. The appropriate use of genetic services is emphasized in this, the molecular era.
Parisi
M A
MA
Department of Pediatrics, Children's Hospital and Regional Medical Center, Seattle, Washington, USA.
Sybert
V P
VP
D002648:Child; D053938:DNA Fragmentation; D003880:Dermatology; D004820:Epidermolysis Bullosa / Q000235:genetics*; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics; D006801:Humans; D008967:Molecular Biology; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics; D010372:Pediatrics; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger; D012878:Skin Neoplasms / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics
D012333:RNA, Messenger