Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33152/fullpdf
Reference13 articles.
1. A new X-linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25;Cabezas;J Med Genet,2000
2. XLMR genes: Update 2007;Chiurazzi;Eur J Hum Genet,2008
3. Identification of mutations in CUL7 in 3-M syndrome;Huber;Nat Genet,2005
4. Human disorders of ubiquitination and proteasomal degradation;Jiang;Curr Opin Pediatr,2004
5. Prevalence of mental retardation and developmental disabilities: Estimates from the 1994/1995 National Health Interview Survey disability supplements;Larson;Am J Ment Retard,2001
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