Diagnostic value of molecular approach in screening for fragile X premutation cases

BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, caused by CGG-repeats expansion (> 200 repeats). Premutation alleles (PM) (55–200 CGG repeats) are associated with tremor ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency...

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Detalles Bibliográficos
Autores principales: Refeat, Miral M., El Saied, Mostafa M., Abdel Raouf, Ehab R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522757/
https://www.ncbi.nlm.nih.gov/pubmed/36409419
http://dx.doi.org/10.1007/s11845-022-03166-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10522757/
https://www.ncbi.nlm.nih.gov/pubmed/36409419
http://dx.doi.org/10.1007/s11845-022-03166-9

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