Advances in the molecular mechanism and diagnosis and treatment of fragile X syndrome / 中国医师杂志
Journal of Chinese Physician
;
(12): 973-975, 2018.
Article
in Chinese
| WPRIM
| ID: wpr-705931
ABSTRACT
Fragile X syndrome (FXS) is the most common monogenic disease that causes intellectual disability and autism spectrum disorder (ASD),causing moderate to severe mental retardation with unusual facial features and connective tissue abnormalities.Fragile X syndrome is caused by the mutation of FMR1 gene,resulting in the reduction or loss of its product,fragile X mental retardation protein (FMRP).The diagnosis is mainly based on the detection of FMR1 gene,and there is no effective treatment for fragile X syndrome.Therefore,it is very important to strengthen genetic counseling and prenatal diagnosis,and effectively reduce the incidence of fragile X syndrome.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
Journal of Chinese Physician
Year:
2018
Type:
Article
Similar
MEDLINE
...
LILACS
LIS