Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
Pauline E. Schneeberger, Leonie von Elsner, Emma L. Barker, Peter Meinecke, Iris Marquardt, Malik Alawi, Katharina Steindl, Pascal Joset, Anita Rauch, Petra Zwijnenburg, Marjan M. Weiss, Catherine L.R. Merry, Kerstin Kutsche
Topics & Concepts
Heparan sulfateFibroblast growth factorSulfationGlycosaminoglycanEndocrinologyBiologyCell biologyInternal medicineChemistryBiochemistryMedicineReceptorProteoglycans and glycosaminoglycans researchFibroblast Growth Factor ResearchConnective tissue disorders research