Publication | Open Access

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Ehlers-danlos SyndromeDefective Collagen AssemblyFibrosisAutoimmune DiseaseGenetic DisorderPathologyBi-allelic AlterationsAutoimmunityDisease Gene IdentificationMedicineCell BiologyConnective Tissue Disease