Fragile X syndrome : current insight
Joint Authors
Dean, Deepika Delsa
Muthuswamy, Srinivasn
Agarwal, Sarita
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 4 (31 Oct. 2016), pp.303-309, 7 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-10-31
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Fragile X syndrome (FXS) is a multigenerational disorder having massive adverse effect not only on the individuals but also on their families.
It is the most common type of intellectual disability after Down’s syndrome.
Over two decades have passed since the discovery of FMR1, the causal gene for FXS, but still little is known about the pathophysiology of this disease.
This lack of knowledge presents the major barrier encountered by the scientific community for early diagnosis and effective treatment.
Since early diagnosis has important implication in determining the disease status among members of the family tree so the genetic counseling and supportive therapy get hampered in larger perspective.
The present review emphasizes on the recent findings in FXS pathophysiology, therapeutics and technical challenges in molecular diagnosis.
American Psychological Association (APA)
Dean, Deepika Delsa& Muthuswamy, Srinivasn& Agarwal, Sarita. 2016. Fragile X syndrome : current insight. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 4, pp.303-309.
https://search.emarefa.net/detail/BIM-737402
Modern Language Association (MLA)
Muthuswamy, Srinivasn…[et al.]. Fragile X syndrome : current insight. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 4 (Oct. 2016), pp.303-309.
https://search.emarefa.net/detail/BIM-737402
American Medical Association (AMA)
Dean, Deepika Delsa& Muthuswamy, Srinivasn& Agarwal, Sarita. Fragile X syndrome : current insight. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 4, pp.303-309.
https://search.emarefa.net/detail/BIM-737402
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 307-309
Record ID
BIM-737402