ALG3-CDG: lethal phenotype and novel variants in Chinese siblings
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s10038-020-0798-7.pdf
Reference14 articles.
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2. Rimella-Le-Huu A, Henry H, Kern I, Hanquinet S, Roulet-Perez E, Newman CJ. et al.Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. J Inherit Metab Dis. 2008;31:S381–S6.
3. Lepais L, Cheillan D, Frachon SC, Hays S, Matthijs G, Panagiotakaki E, et al. ALG3-CDG: report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation. Am J Med Genet A. 2015;167A:2748–54.
4. Kranz C, Sun L, Eklund EA, Krasnewich D, Casey JR, Freeze HH. CDG-Id in two siblings with partially different phenotypes. Am J Med Genet A. 2007;143A:1414–20.
5. Alsubhi S, Alhashem A, Faqeih E, Alfadhel M, Alfaifi A, Altuwaijri W, et al. Congenital disorders of glycosylation: the Saudi experience. Am J Med Genet A. 2017;173:2614–21.
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