Associated Papers
A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.
Mughal TA et al.
Molecular Syndromology, 2024
A Chinese case of CHST3-related skeletal dysplasia and a systematic review.
Liang H et al.
Endocrine, 2023
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
Kausar M et al.
Bmc Musculoskeletal Disorders, 2022
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
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
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