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Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum

Crossref DOI link: https://doi.org/10.1007/s10048-024-00784-6

Published Online: 2024-11-26

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Pan, Hu

He, Mei

Luo, Xuan

Hu, Juanli

Mao, Xiao

Cheng, Yong

Liu, Zhen
Funding

Funding for this research was provided by:

Natural Science Foundation of Hunan Province (No.2022JJ40206)

Hunan Provincial Maternal and Child Health Care Hospital Postdoctoral Research Startup Fund
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Text and Data Mining valid from 2024-11-26

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Article History

Received: 5 September 2024

Accepted: 24 October 2024

First Online: 26 November 2024

Declarations

:

: This study was conducted in accordance with the Declaration of Helsinki and received approval from the Institutional Review Board (IRB) of Hunan Provincial Maternal and Child Health Hospital. Written informed consent was obtained from the legal guardians of all participants involved. This consent encompasses all aspects of participation and data usage. To protect the privacy of both patients and control subjects, all personal identifiers have been removed from the research data.

: We hereby clarify that written informed consent has been obtained from all participants involved in the study regarding the publication of their personal or clinical details, as well as any identifying images. For minor patients, written informed consent has been obtained from their parents. This consent covers the use of these details and images in this study and in any potential publications in scientific journals.

: The authors declare no competing interests.

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