De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation
Author:
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-019-0650-0.pdf
Reference16 articles.
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2. Cho TJ, Kim OH, Choi IH, Nishimura G, Superti-Furga A, Kim KS, et al. A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1. J Med Genet. 2010;47:638–9.
3. Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, et al. Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet. 2010;87:95–100.
4. Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, et al. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. J Med Genet. 2015;52:476–83.
5. Nakamura M, Matsuda Y, Higo M, Nishimura G. A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types. Am J Med Genet A. 2007;143A:2079–81.
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