Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/51207
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
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 Responsibility: | 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 Humans Mental Retardation, X-Linked Female Male Genetic Variation |
Description: | Copyright 2009 Elsevier Ltd. All rights reserved. |
DOI: | 10.1016/j.tig.2009.05.002 |
Published version: | http://dx.doi.org/10.1016/j.tig.2009.05.002 |
Appears in Collections: | Aurora harvest Paediatrics publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.