The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (> 200 base pairs) on the promotor region of the fragile X me...

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Detalles Bibliográficos
Autores principales: Jalnapurkar, Isha, Frazier, Jean A., Roth, Mark, Cochran, David M., Foley, Ann, Merk, Taylor, Venuti, Lauren, Ronco, Lucienne, Raines, Shane, Cadavid, Diego
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733195/
https://www.ncbi.nlm.nih.gov/pubmed/36494616
http://dx.doi.org/10.1186/s11689-022-09465-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733195/
https://www.ncbi.nlm.nih.gov/pubmed/36494616
http://dx.doi.org/10.1186/s11689-022-09465-7

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