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Article History

Received: 3 August 2025

Revised: 1 September 2025

Accepted: 3 September 2025

First Online: 12 September 2025

Declarations

:

: The clinical trial was supported by Xiamen Biofast Biotechnology Co., Ltd., Xiamen, P.R. China. No other financial or non-financial benefits have been received or will be received from any party related directly or indirectly to the subject of this article.

: The study was conducted in accordance with the Declaration of Helsinki and was approved by the respective institutional ethics committees. The approval numbers are as follows: Children’s Hospital, Zhejiang University School of Medicine: 2020-IEC-003, 2022-IEC-0034-P-01; Women’s Hospital, Zhejiang University School of Medicine: IRB-20200079-K; Jinan Maternity and Child Care Hospital: IEC20200301; Liuzhou Maternity and Child Healthcare Hospital: YJ202101401; Children’s Hospital of Fudan University: IRB[2022]389; Hunan Children’s Hospital: HNSETYYLL2023005. This study is registered under the trial number ChiCTR2500102175. All enrolled patients provided written informed consent for molecular analyses prior to the collection of tissue specimens. The use of residual EDTA-anticoagulated peripheral blood from previous clinical tests was exempt from informed consent. Test results were communicated to the patients’ physicians, who incorporated the genetic findings with clinical presentations to establish a final diagnosis.