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https://hdl.handle.net/2440/51207
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dc.contributor.author | Gecz, J. | - |
dc.contributor.author | Shoubridge, C. | - |
dc.contributor.author | Corbett, M. | - |
dc.date.issued | 2009 | - |
dc.identifier.citation | Trends in Genetics, 2009; 25(7):308-316 | - |
dc.identifier.issn | 0168-9525 | - |
dc.identifier.uri | http://hdl.handle.net/2440/51207 | - |
dc.description | Copyright 2009 Elsevier Ltd. All rights reserved. | - |
dc.description.abstract | 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, approximately 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. | - |
dc.description.statementofresponsibility | Jozef Gécz, Cheryl Shoubridge and Mark Corbett | - |
dc.language.iso | en | - |
dc.publisher | Elsevier Science London | - |
dc.source.uri | http://dx.doi.org/10.1016/j.tig.2009.05.002 | - |
dc.subject | Chromosomes, Human, X | - |
dc.subject | Humans | - |
dc.subject | Mental Retardation, X-Linked | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Genetic Variation | - |
dc.title | The genetic landscape of intellectual disability arising from chromosome X | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1016/j.tig.2009.05.002 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
dc.identifier.orcid | Shoubridge, C. [0000-0002-0157-3084] | - |
dc.identifier.orcid | Corbett, M. [0000-0001-9298-3072] | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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