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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

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