Journal
TRENDS IN GENETICS
Volume 25, Issue 7, Pages 308-316Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2009.05.002
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Funding
- National Health and Medical Research Council of Australia
- SMILE foundation
- WCH Research Foundation
- Denis Harwood
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X-linked mental retardation (XLMR) or intellectual disability (ID) is a common, clinically complex and genetically heterogeneous disease arising from many mutations along the X chromosome. It affects between 1/600-1/1000 males and a substantial number of females. Research during the past decade has identified >90 different XLMR genes, affecting a wide range of cellular processes. Many more genes remain uncharacterized, especially for the non-syndromic XLMR forms. Currently, similar to 11% of X-chromosome genes are implicated in XLMR; however, apart from a few notable exceptions, most contribute individually to <0.1% of the total landscape, which arguably remains only about half complete. There remain many hills to climb and valleys to cross before the ID landscape is fully triangulated.
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