Review of published 467 achondroplasia patients: clinical and mutational spectrum.

Authors:
Zhang X; Jiang S; Zhang R; Guo S; Sheng Q and 4 more

Journal:
Orphanet J Rare Dis

Publication Year: 2024

DOI:
10.1186/s13023-024-03031-1

PMCID:
PMC10822181

PMID:
38281003

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 approval and consent to participateNot applicable. Consent for publicationNot applicable. Competing interestsThe review was conducted without any commercial or financial relationships that could be construed as potential conflicts of interest. Competing interests The review was conducted without any commercial or financial relationships that could be construed as potential conflicts of interest."

Evidence found in paper:

"Funding This work was funded by the General Program of National Natural Science Foundation of China (82170824)."

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