A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.

Authors:
Zhang Z; Bie X; Chen Z; Liu J; Xie Z and 6 more

Journal:
BMC Pediatr

Publication Year: 2024

DOI:
10.1186/s12887-023-04442-y

PMCID:
PMC10858475

PMID:
38341530

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
3/6
50.0% Transparent
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Evidence found in paper:

"Declarations Ethics approval and consent to participateThis study was carried out in accordance with the principles of the Declaration of Helsinki and in a manner consistent with good clinical practice. The study was approved by the Ethics Committee of the Children’s Hospital Affiliated to Zhengzhou University. Signed informed consent was obtained from the patient’s parents. Consent for publicationWritten informed consent for the publication of clinical details was obtained from both parents of the participant. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."

Evidence found in paper:

"Funding This research was funded by the National Natural Science Foundation of China (82000850). The funding bodies played no role in the design of the study and collection, analysis, and interpretation of data and in writing the manuscript."

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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025