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Type: Journal article
Title: The genetic landscape of intellectual disability arising from chromosome X
Author: Gecz, J.
Shoubridge, C.
Corbett, M.
Citation: Trends in Genetics, 2009; 25(7):308-316
Publisher: Elsevier Science London
Issue Date: 2009
ISSN: 0168-9525
Statement of
Jozef Gécz, Cheryl Shoubridge and Mark Corbett
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.
Keywords: Chromosomes, Human, X
Mental Retardation, X-Linked
Genetic Variation
Description: Copyright 2009 Elsevier Ltd. All rights reserved.
DOI: 10.1016/j.tig.2009.05.002
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Appears in Collections:Aurora harvest
Paediatrics publications

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