Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy

Abstract Background and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression. Espansion between 55 and 200 triplets fall within the premutation range (PM) and can lead...

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Päätekijät:	Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	BMC 2024-07-01
Sarja:	Orphanet Journal of Rare Diseases
Aiheet:	FMR1 gene Developmental disorders Fragile X syndrome FMR1 premutation Voice of the patient Cognitive phenotype
Linkit:	https://doi.org/10.1186/s13023-024-03272-0
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