The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants.
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Full Title: BMC Pediatr
Abbreviation: BMC Pediatr
Country: Unknown
Publisher: Unknown
Language: N/A
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"data availability all data generated or analysed during this study are included in this published article. the original contributions presented in this study are publicly available. the nudt2 variants nm_001161"
"Declarations Ethics approval and consent to participateThe patient was admitted to the rehabilitation department of Wuhan Children’s Hospital in September 2021. All procedures performed in studies involving human participants were conformed to the ethical guidelines of the 1975 Declaration of Helsinki and approved by the Ethical Committee of Wuhan Children’s Hospital (Ethical approval number: 2022R043-E01). Written informed consent for genetic analysis was obtained from the parents of the affected individual. Consent for publicationWritten informed consent was obtained from the patient’s parents for publication of this Case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal. Competing interestsThe authors declare that they have no conflicts of interest. Competing interests The authors declare that they have no conflicts of interest."
"Funding This work was supported by grants from the Science Foundation of Wuhan Health and Family Planning Commission (grant number WZ22Q33 to Yangcan Ming). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript."
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Last Updated: Aug 05, 2025