1. Umair, M, Eckstein, G, Rudolph, G, Schmidt, H, Ahmad, W. 2018. Homozygous XYLT2 variants as a cause of spondyloocular syndrome. In Clinical genetics, 93, 913-918. doi:10.1111/cge.13179. https://pubmed.ncbi.nlm.nih.gov/29136277/
2. Conte, Federica, Sam, Juda-El, Lefeber, Dirk J, Passier, Robert. 2023. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms24108632. https://pubmed.ncbi.nlm.nih.gov/37239976/
3. Taylan, Fulya, Costantini, Alice, Coles, Nicole, Tüysüz, Beyhan, Mäkitie, Outi. 2016. Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum. In Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 31, 1577-85. doi:10.1002/jbmr.2834. https://pubmed.ncbi.nlm.nih.gov/26987875/
4. Sivasami, Pulavendran, Poudel, Nabin, Munteanu, Maria Cristina, Griffin, Tim, Hinsdale, Myron E. 2019. Adipose tissue loss and lipodystrophy in xylosyltransferase II deficient mice. In International journal of obesity (2005), 43, 1783-1794. doi:10.1038/s41366-019-0324-1. https://pubmed.ncbi.nlm.nih.gov/30778123/
5. Buyukyilmaz, Gonul, Adiguzel, Keziban Toksoy, Kılıc, Esra. 2023. Bisphosphonate treatment at spondylo-ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature. In American journal of medical genetics. Part A, 191, 1581-1585. doi:10.1002/ajmg.a.63163. https://pubmed.ncbi.nlm.nih.gov/36815763/
6. Chouery, Eliane, Karam, Rim, Mrad, Yves Najm, Mahfoud, Daniel, Megarbane, Andre. 2023. Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation. In Genes, 14, . doi:10.3390/genes14020497. https://pubmed.ncbi.nlm.nih.gov/36833424/
7. Doddato, Gabriella, Fabbiani, Alessandra, Fallerini, Chiara, Renieri, Alessandra, Ariani, Francesca. 2021. Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype. In Frontiers in genetics, 12, 761264. doi:10.3389/fgene.2021.761264. https://pubmed.ncbi.nlm.nih.gov/34925453/
8. Taylan, Fulya, Yavaş Abalı, Zehra, Jäntti, Nina, Tüysüz, Beyhan, Mäkitie, Outi. 2017. Two novel mutations in XYLT2 cause spondyloocular syndrome. In American journal of medical genetics. Part A, 173, 3195-3200. doi:10.1002/ajmg.a.38470. https://pubmed.ncbi.nlm.nih.gov/28884924/
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