Funder
U.S. Department of Health & Human Services | National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference16 articles.
1. Jones KL, Schwarze U, Adam MP, Byers PH, Mefford HC. A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. Am J Med Genet A. 2015;167A:2691–6.
2. Guo MH, Stoler J, Lui J, Nilsson O, Bianchi D, Hirschhorn JN, et al. Redefining the progeroid form of Ehlers–Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet A. 2013;161A:2519–27.
3. Taylan F, Makitie O. Abnormal proteoglycan synthesis due to gene defects causes skeletal diseases with overlapping phenotypes. Horm Metab Res. 2016;48:745–54.
4. Ritelli M, Dordoni C, Cinquina V, Venturini M, Calzavara-Pinton P, Colombi M. Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers–Danlos syndrome. Orphanet J Rare Dis. 2017;12:153.
5. Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D, Study DDD, et al. Further defining the phenotypic spectrum of B4GALT7 mutations. Am J Med Genet A. 2016;170:1556–63.
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