Associated Papers
A Chinese case of CHST3-related skeletal dysplasia and a systematic review.
Liang H et al.
Endocrine, 2023
[Hereditary Skeletal and Skin Disorders Caused by Defects in the Biosynthesis of Chondroitin/Dermatan Sulfate, and Molecular Mechanisms of Pulmonary Metastasis].
Mizumoto S
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2019
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
Srivastava P et al.
American Journal of Medical Genetics. Part A, 2017
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Unger S et al.
American Journal of Medical Genetics. Part A, 2010
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
Tuysuz B et al.
Clinical Genetics, 2009
Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1.
Kitagawa H et al.
The Journal of Biological Chemistry, 2008
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
van Roij MH et al.
American Journal of Medical Genetics. Part A, 2008
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