The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.

Authors:
Yue X; Liu B; Han T; Guo D; Ding R and 1 more

Journal:
BMC Pediatr

Publication Year: 2024

DOI:
10.1186/s12887-024-04636-y

PMCID:
PMC10921566

PMID:
38459438

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:

"the datasets generated and/or analysed during the current study are available in the clinvar repository and may be found at the following address: https://www ncbi nlm nih gov/clinvar/variation/2637360/ ."

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Evidence found in paper:

"Declarations Ethics approval and consent to participateWritten informed consent was obtained from the parents of the patient for the publication of any potentially identifiable images or data included in this article. The parents of the patient have given parental consent for this study. Consent for publicationInformed consent for the publication of identifiable information/ images in open-access journals was obtained from the patient and the family. Competing interestsThe authors have indicated they have no potential conflicts of interest to disclose. Competing interests The authors have indicated they have no potential conflicts of interest to disclose."

Evidence found in paper:

"Funding No funding was obtained for this study."

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