Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||The genetic landscape of intellectual disability arising from chromosome X|
|Citation:||Trends in Genetics, 2009; 25(7):308-316|
|Publisher:||Elsevier Science London|
|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.|
|Appears in Collections:||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.