Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Reference15 articles.
1. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C. 2017;175:8–26.
2. Brady AF, Demirdas S, Fournel-Gigleux S, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C. 2017;175:70–115.
3. Arunrut T, Sabbadini M, Jain M, Machol K, Scaglia F, Slavotinek A. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7—a review of eye anomalies in the linkeropathy syndromes. Am J Med Genet A. 2016;170A:2711–8.
4. Bin BH, Fukada T, Hosaka T, et al. Biochemical characterization of human ZIP13 protein: a homodimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers–Danlos syndrome. J Biol Chem. 2011;286:40255–65.
5. Kresse H, Rosthoj S, Quentin E, et al. 1987. Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am J Hum Genet. 1987;41:436–53.
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