The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants.

Authors:
Bi B; Chen X; Huang S; Peng M; Gu W and 2 more

Journal:
BMC Pediatr

Publication Year: 2024

DOI:
10.1186/s12887-024-04542-3

PMCID:
PMC10797960

PMID:
38243213

Journal Information

Full Title: BMC Pediatr

Abbreviation: BMC Pediatr

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Pediatrics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Evidence found in paper:

"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"

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Evidence found in paper:

"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."

Evidence found in paper:

"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