Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.

Authors:
Zhao T; Wu S; Shen Y; Leng J; Genchev GZ and 2 more

Journal:
Orphanet J Rare Dis

Publication Year: 2024

DOI:
10.1186/s13023-024-03055-7

PMCID:
PMC10851572

PMID:
38331897

Journal Information

Full Title: Orphanet J Rare Dis

Abbreviation: Orphanet J Rare Dis

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Medicine

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 statement and consent to participateThe study was approved by the Ethical Committee of Shanghai Children’s Hospital (Approval No. 2021R037-E01). The requirement of written informed consent was waived by the ethics committee due to the retrospective nature of this study. Consent for publicationNot applicable. Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

Evidence found in paper:

"Funding This research project was supported by the funding from Clinical Research Plan of SHDC, SHDC2020CR6028; and the Second Century Fund (C2F), Chulalongkorn University, Bangkok, Thailand."

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