Dhawale A et al. Posterior Circulation Stroke due to Atlantoaxial Instability in CHST3-Related Skeletal Dysplasia: A case report. JBJS Case Connect. 2021;11(1) - e20.00393 doi: 10.2106/JBJS.CC.20.00393. PMID:33625031.

Duz MB, Topak A. Recurrent c. 776T> C mutation in CHST3 with four other novel mutations and a literature review. Clin Dysmorphol. 2020;29(4):167-72. PMID: 32639237.

Muys J et al. Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. Clin Case Rep. 2017;5(4):440-445. doi: 10.1002/ccr3.800. PMID: 28396765.

Srivastava P et al. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. Am J Med Genet A. 2017;173(1):163-8. PMID: 27753269.

Tuysuz B et al. Omani‐type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. Clin Genet. 2009;75(4):375-83. PMID: 19320654.

Tanteles GA et al. Two Somali half‐siblings with CHST3‐related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability. Am J Med Genet A. 2013;161(10):2588-93. PMID: 23918704.

Unger S et al. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A. 2010;152(10):2543-9. PMID: 20830804.

van Roij MH et al. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med Genet. 2008;146(18):2376-84. PMID: 18698629.

Waryah AM et al. A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. Clinic Genet. 2016;90(1):90-5. PMID: 26572954.