Genotype–phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review

Genotype–phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review

Abstract Background The focus of this study was a comparison of the phenotypical and genotypical differences in PURA syndrome among Asian and non-Asian patients. A retrospective cohort study was performed in a single medical center from January 2014 to May 2025 on patients carrying causative genes f...

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Bibliographic Details
Main Authors: Shu-Ning Liu, Ching-Shiang Chi, Hsiu-Fen Lee, Chi-Ren Tsai, Yao-Lun Yang, Pei-Yu Wu
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Asians
Atrioventricular block
Clinical features
Non-Asians
PURA syndrome
Online Access:https://doi.org/10.1186/s13023-025-03908-9
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https://doi.org/10.1186/s13023-025-03908-9

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