BackgroundCamurati-Engelmann disease (CED) is a sclerosing bone dysplasia caused by transforming growth factor β1 (TGFB1) gene variants. ObjectiveWe aim to summarize the clinical characteristics and t
Stiffness index values are least square means computed in a glm analysis using the variable with the four genotypes as independent variable. P for interaction was computed for CC*GG. P value for the a
supplemental_file_list.pdf-- contains a list of all supplemental files. supplemental_materials.pdf-- contains supplemental figures, tables, and references. at_risk_id_key.tsv-- contains phenotype in
The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical phen
