Associated Papers
CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Otaify GA et al.
American Journal of Medical Genetics. Part A, 2023
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
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
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
Phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution.
Hao D et al.
Science China. Life Sciences, 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
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
Hermanns P et al.
American Journal of Human Genetics, 2008
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.
Thiele H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
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