Matches in SemOpenAlex for { <https://semopenalex.org/work/W2621056521> ?p ?o ?g. }
- W2621056521 endingPage "76" @default.
- W2621056521 startingPage "57" @default.
- W2621056521 abstract "Abstract This chapter provides a review of studies on the prevalence of Fragile X Syndrome (FXS) and factors that may lead to its variation, such as sex of the carrier, race/ethnicity, and genotype. We focus on the most recent systematic review and metaanalysis of the literature that was performed by Hunter et al. [Hunter, J., Rivero-Arias, O., Angelov, A., Kim, E., Fotheringham, I., & Leal, J. (2014). Epidemiology of fragile X syndrome: a systematic review and meta-analysis. American Journal of Medical Genetics A , 164A(7), 1648–1658] to provide estimates of the prevalence of FXS in males and females. We also document studies among various racial/ethnic groups and geographic regions to show that FXS is present in almost all subpopulations investigated. Lastly, we review the more rare sequence mutations in the FMR1 gene, specifically deletions and point mutations that lead to FXS-associated symptoms. We conclude by suggesting that additional large-scale studies are needed to better define the burden of the FMR1 mutations globally." @default.
- W2621056521 created "2017-06-09" @default.
- W2621056521 creator A5010485441 @default.
- W2621056521 creator A5046083954 @default.
- W2621056521 date "2017-01-01" @default.
- W2621056521 modified "2023-09-27" @default.
- W2621056521 title "Epidemiology of Fragile X Syndrome" @default.
- W2621056521 cites W1483396689 @default.
- W2621056521 cites W1487549273 @default.
- W2621056521 cites W1710017602 @default.
- W2621056521 cites W189111694 @default.
- W2621056521 cites W1965408703 @default.
- W2621056521 cites W1968801213 @default.
- W2621056521 cites W1972369322 @default.
- W2621056521 cites W1973198154 @default.
- W2621056521 cites W1973357266 @default.
- W2621056521 cites W1975273712 @default.
- W2621056521 cites W1975576726 @default.
- W2621056521 cites W1975841935 @default.
- W2621056521 cites W1976881543 @default.
- W2621056521 cites W1979762144 @default.
- W2621056521 cites W1981298762 @default.
- W2621056521 cites W1983796580 @default.
- W2621056521 cites W1986207834 @default.
- W2621056521 cites W1986885673 @default.
- W2621056521 cites W1987468173 @default.
- W2621056521 cites W1989326324 @default.
- W2621056521 cites W1990458145 @default.
- W2621056521 cites W1990995702 @default.
- W2621056521 cites W1993250713 @default.
- W2621056521 cites W1994639856 @default.
- W2621056521 cites W1994817684 @default.
- W2621056521 cites W1996128764 @default.
- W2621056521 cites W2001087751 @default.
- W2621056521 cites W2005665934 @default.
- W2621056521 cites W2008807795 @default.
- W2621056521 cites W2010683528 @default.
- W2621056521 cites W2011932032 @default.
- W2621056521 cites W2012894105 @default.
- W2621056521 cites W2014826712 @default.
- W2621056521 cites W2015760556 @default.
- W2621056521 cites W2016229142 @default.
- W2621056521 cites W2018916360 @default.
- W2621056521 cites W2021675877 @default.
- W2621056521 cites W2022174739 @default.
- W2621056521 cites W2022472203 @default.
- W2621056521 cites W2023648173 @default.
- W2621056521 cites W2023803158 @default.
- W2621056521 cites W2029687941 @default.
- W2621056521 cites W2030430162 @default.
- W2621056521 cites W2032687048 @default.
- W2621056521 cites W2033452250 @default.
- W2621056521 cites W2035470829 @default.
- W2621056521 cites W2039031098 @default.
- W2621056521 cites W2039840132 @default.
- W2621056521 cites W2040316692 @default.
- W2621056521 cites W2040773687 @default.
- W2621056521 cites W2040883855 @default.
- W2621056521 cites W2042161338 @default.
- W2621056521 cites W2042827453 @default.
- W2621056521 cites W2045955598 @default.
- W2621056521 cites W2045983729 @default.
- W2621056521 cites W2048371086 @default.
- W2621056521 cites W2055231051 @default.
- W2621056521 cites W2058207054 @default.
- W2621056521 cites W2062105519 @default.
- W2621056521 cites W2064639043 @default.
- W2621056521 cites W2064740540 @default.
- W2621056521 cites W2065108915 @default.
- W2621056521 cites W2065487241 @default.
- W2621056521 cites W2067427403 @default.
- W2621056521 cites W2068325625 @default.
- W2621056521 cites W2069017725 @default.
- W2621056521 cites W2070908120 @default.
- W2621056521 cites W2071771669 @default.
- W2621056521 cites W2073347350 @default.
- W2621056521 cites W2073919794 @default.
- W2621056521 cites W2076771828 @default.
- W2621056521 cites W2077027461 @default.
- W2621056521 cites W2084008552 @default.
- W2621056521 cites W2084547117 @default.
- W2621056521 cites W2085626945 @default.
- W2621056521 cites W2086812350 @default.
- W2621056521 cites W2088094988 @default.
- W2621056521 cites W2089543835 @default.
- W2621056521 cites W2090572207 @default.
- W2621056521 cites W2091762272 @default.
- W2621056521 cites W2091926916 @default.
- W2621056521 cites W2092911546 @default.
- W2621056521 cites W2093546477 @default.
- W2621056521 cites W2094128990 @default.
- W2621056521 cites W2094210301 @default.
- W2621056521 cites W2095212652 @default.
- W2621056521 cites W2096634697 @default.
- W2621056521 cites W2097927344 @default.
- W2621056521 cites W2100770813 @default.
- W2621056521 cites W2102480435 @default.
- W2621056521 cites W2104346867 @default.