Estimation of the prevalence of fragile X syndrome in England from the Clinical Practice Research Datalink

Aims Accurate prevalence estimates are vital for the provision of healthcare services. We calculated the diagnosed UK prevalence of fragile X syndrome (FXS) and estimated the undiagnosed FXS population.Methods A retrospective study was conducted in the Clinical Practice Research Datalink. Patients w...

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Bibliografische Detailangaben

Hauptverfasser:	Andrew Cooper, Christopher Ll Morgan, Leah Fisher, Bethan I Jones, Peter Conway, Andrew C Stanfield, Andrew G McKechanie
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMJ Publishing Group 2025-12-01
Schriftenreihe:	BMJ Connections Clinical Genetics and Genomics
Online-Zugang:	https://connectionscgg.bmj.com/content/2/1/e000010.full
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