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ArticleAmerican journal of human genetics2007

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.

Patrick S Tarpey et al.PubMed ↗Full text ↗Publisher ↗

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