Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders

Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS)) relies on a combination of...

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Detalles Bibliográficos
Autores principales: Rajan-Babu, Indhu-Shree, Chong, Samuel S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083926/
https://www.ncbi.nlm.nih.gov/pubmed/27754417
http://dx.doi.org/10.3390/genes7100087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083926/
https://www.ncbi.nlm.nih.gov/pubmed/27754417
http://dx.doi.org/10.3390/genes7100087

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