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Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population.

Hong Kong medical journal = Xianggang yi xue za zhi - 1 Jun 2025

Au C W M, Luk H M, Ho S, Cheng S W, Lam S T S, Chung B H Y, Chong S C, Lo I F M

Abstract excerpt

INTRODUCTION: Fragile X syndrome (FXS) is a common inherited cause of intellectual disability, and FXS testing is recommended as a first-line genetic investigation for global developmental delay or intellectual disability. This retrospective study evaluated the diagnostic yield of FXS testing and clinical features in Chinese patients in Hong Kong. METHODS: From 1993 to 2022, 7291 patients referred to the Clinical...

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Identifiers

PMID: 40468528
DOI: 10.12809/hkmj2411942

Genes

FMR1

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