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Article

A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.

European journal of human genetics : EJHG - 1 Jan 2023

Dai Weiqian, Sun Yu, Fan Yanjie, Gao Yan, Zhan Yongkun, Wang Lili, Xiao Bing, Qiu Wenjuan, Gu Xuefan, Sun Kun, Yu Yongguo, Xu Na

Abstract excerpt

PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 microdeletion syndrome and PURA syndrome. PURA has been proposed as a candidate gene responsible for 5q31.3 microdeletion syndrome. Phenotype comparisons between patients with PURA mutations and 5q31.3 microdeletions encompassing more than PURA gene are lacking. A total of 25 previously undescribed Mainland China patients were evaluated....

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Identifiers

PMID: 36376392
DOI: 10.1038/s41431-022-01217-4
PMCID: PMC9822978

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A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.PMID 36376392Read ↗

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