Clinical utility gene card for: 3M syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201132.pdf
Reference11 articles.
1. Avela K, Lipsanen-Nyman M, Idanheimo N et al: Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet 2000; 25: 298–301.
2. Elliott AM, Graham JM, Curry CJ, Pal T, Rimoin DL, Lachman RS : Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. Am J Med Gene 2002; 113: 351–361.
3. Hanson D, Murray PG, Sud A et al: The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet 2009; 84: 801–806.
4. Huber C, Dias-Santagata D, Glaser A et al: Identification of mutations in CUL7 in 3-M syndrome. Nat Genet 2005; 37: 1119–1124.
5. Huber C, Delezoide A-L, Guimiot F et al: A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet 2009; 17: 395–400.
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