机译:Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta
Yorkshire Reg Genet Serv,Chapel Allerton Hosp;
Histopathol Dept,Royal Hallamshire Hosp;
Sheffield Diagnost Genet Serv,Sheffield Childrens HospEhlers Danlos Syndrome Natl Diagnost Serv,Sheffield Childrens NHS Fdn TrustSheffield Clin Genet Serv,Sheffield Childrens NHS Fdn Trust;
electron microscopy; rough endoplasmic reticulum; endoplasmic reticulum stress; Vascular EDS; Osteogenesis Imperfecta; SYNDROME TYPE-IV; COL3A1 GENE; PHENOTYPE; VARIANTS; INSIGHTS;