From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB).

Shaundra EichstadtJean Y TangDaniel C SolisZurab SiprashviliM Peter MarinkovichNedra Whitehead Matthew SchuFang FangStephen W EricksonMary E RitcheyMax ColaoKaye SprattAmir ShayganMark J Ahn Kavita Y Sarin

Published in: Clinical, cosmetic and investigational dermatology (2019)

We conclude that genetic allele frequency estimation may enhance the underdiagnosis of rare genetic diseases generally, and RDEB specifically, which may improve incidence and prevalence estimates of patients who may benefit from treatment.

Keyphrases

risk factors
genome wide
copy number
intellectual disability
gene expression
dna methylation