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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Am J Hum Genet. 2007 Feb;80(2):345-52. doi: 10.1086/511134. Epub 2007 Jan 4.
Am J Hum Genet. 2007.
PMID: 17236139
Free PMC article.
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.
Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA.
Cabezas DA, et al.
J Med Genet. 2000 Sep;37(9):663-8. doi: 10.1136/jmg.37.9.663.
J Med Genet. 2000.
PMID: 10978355
Free PMC article.
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