“Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease”
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology and Allergy,Rheumatology,Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1186/s12969-017-0215-8.pdf
Reference5 articles.
1. Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, et al. Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease. Pediatr Rheumatol. 2017;15(1):72.
2. Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, et al. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet. 2013;93(6):1100–7.
3. Larizza L, Roversi G, Volpi L. Rothmund-thomson syndrome. Orphanet journal of rare diseases. 2010;5(1):2.
4. Goto M, Okawa-Takatsuji M, Aotsuka S, Nakai H, Shimizu M, Goto H, et al. Significant elevation of IgG anti-WRN (RecQ3 RNA/DNA helicase) antibody in systemic sclerosis. Mod Rheumatol. 2006;16:229–34.
5. Kim HK, Lee JY, Bae EJ, Oh PS, Park WI, Lee DS, et al. Hutchinson-Gilford progeria syndrome with G608G LMNA mutation. J Korean Med Sci. 2011 Dec;26(12):1642–5.
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