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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

scientific article

Author/s

author: Sarah Edkins, Martin Bobrow, Richard Wooster, Sarah O'Meara, Keiran Raine, Sara Widaa, Tatiana Mironenko, Lucianne Vandeleur, Syd Barthorpe, Gemma Buck, Jennifer Varian, Kristian Gray, Andy Jenkinson, David Richardson, Jozef Gécz, P. Andrew Futreal, Uma Mallya, Douglas F. Easton, Andrew Menzies, Jon Teague, Michael Stratton, David R. Jones, Patrick S. Tarpey, Tim Avis, Jackie Boyle, Sofie West, Kelly Halliday, Jayson Rodriguez, Alexandra Small, Calli Tofts, Gillian Turner

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Work details

Publication date
February 2007
- -
Language
English

Copyright status