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Paper Details

Identification of potential non-invasive biomarkers in diastrophic dysplasia.
Bone
0
2023
CXM, DTD, Diastrophic dysplasia, N, SLC26A2 gene, SLC26A2 variants, achondroplasia, chloride, chondroitinase ABC and ACII, collagen X, collagen X marker, diastrophic dysplasia, disaccharide, metabolic disorders, mucopolysaccharidoses, osteogenesis imperfecta, patient, patients, recessive chondrodysplasia, sulfate, sulfate/chloride antiporter, sulfated, urinary, urinary GAGs
Author NameAffiliation
Angela L DukerNemours Children's Hospital
Carlos R FerreiraNational Human Genome Research Institute
Andreas ZanklUniversity of Sydney, The Children's Hospital at Westmead and Garvan Institute for Medical Research
Michael B BoberNemours Children's Hospital, USA Thomas Jefferson University
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Release 1.2