A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia.

Authors:
Huang D; Jiang M; Zhu Y; Li D; Lu X and 1 more

Journal:
BMC Pediatr

Publication Year: 2024

DOI:
10.1186/s12887-024-04552-1

PMCID:
PMC10799460

PMID:
38245683

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 participateWritten informed consent was obtained from the parents for the publication of any potentially identifiable images or data included in this article. The study was approved by the Ethics Committee of West China Second University Hospital and complied with the guidelines outlined in the declaration of Helsinki were followed. Consent to publishN/A. Conflict of interestThe authors declare that there is no conflict of interest. Conflict of interest The authors declare that there is no conflict of interest."

Evidence found in paper:

"Funding Funding to support this study included the Application Foundation Program of Science and Technology Department of Sichuan Province (2020YFS0253)."

Protocol Registration
Open Access
Paper is freely available to read
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025