De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Biotechnology
Link
http://link.springer.com/content/pdf/10.1186/s12864-015-1898-1
Reference15 articles.
1. Lango Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet. 2014;46(11):1173–86.
2. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997;16:54–63.
3. Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet. 1998;19:67–9.
4. Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, et al. Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. Am J Hum Genet. 2011;89:751–9.
5. Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31(13):3812–4.
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