Article
An investigation of FRAXA intermediate allele phenotype in a longitudinal sample.
Annals of human genetics - 1 Mar 2006
Ennis S, Murray A, Youings S, Brightwell G, Herrick D, Ring S, Pembrey M, Morton N E, Jacobs P A
Abstract excerpt
The FRAXA trinucleotide repeat at Xq27.3 gives rise to fragile X syndrome when fully expanded, and both premature ovarian failure (POF) and fragile X tremor and ataxia syndrome (FXTAS) when in the premutation range. Reports of phenotypic effects extending into the intermediate repeat range are inconsistent but some studies suggest that these smaller expansions predispose to special educational needs (SEN). This...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.