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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Common genodermatoses: what the pediatrician needs to know
Julianne A Mann1, Dawn H Siegel
1Department of Dermatology, Oregon Health Sciences University, Portland, OR 97239, USA.
Abstract:
Recognizing the patterns of the skin findings and establishing the correct diagnosis can also help avoid subjecting patients to unnecessary tests, such as lumbar punctures to rule out herpes simplex virus in neonates with a Blaschkoid distribution of vesicles in incontinentia pigmenti. The cutaneous features of genetic disorders provide important clues to the underlying diagnoses for conditions such as tuberous sclerosis, neurofibromatosis, incontinentia pigmenti, and help direct the diagnostic evaluation and health supervision in those individuals.
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