De Novo Large Deletion Leading to Fragile X Syndrome

Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of the FMR1 gene, resulting in the absence of th...

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Detalles Bibliográficos
Autores principales: Jiraanont, Poonnada, Manor, Esther, Tabatadze, Nazi, Zafarullah, Marwa, Mendoza, Guadalupe, Melikishvili, Gia, Tassone, Flora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130735/
https://www.ncbi.nlm.nih.gov/pubmed/35646065
http://dx.doi.org/10.3389/fgene.2022.884424

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130735/
https://www.ncbi.nlm.nih.gov/pubmed/35646065
http://dx.doi.org/10.3389/fgene.2022.884424

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