Associated Papers
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
A Chinese case of CHST3-related skeletal dysplasia and a systematic review.
Liang H et al.
Endocrine, 2023
Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.
Duz MB et al.
Clinical Dysmorphology, 2020
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M et al.
Human Mutation, 2012
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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