Caraffi SG et al. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. Genes (Basel). 2019; (10):799. doi: 10.3390/genes10100799. PMID: 31614862.
Mihalic Mosher T et al. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia. Eur J Hum Genet. 2019; (10):1569-1577. doi: 10.1038/s41431-019-0464-8. PMID: 31278392.
Malfait F et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi: 10.1002/ajmg.c.31552. PMID: 28306229.
Miyake N et al. Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities. Adv Exp Med Biol. 2021;1348:235-249. doi: 10.1007/978-3-030-80614-9_10. PMID: 34807422.
Unger S et al. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 Feb 13. doi: 10.1002/ajmg.a.63132. Epub ahead of print. PMID: 36779427.
B4GALT7