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First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view

Crossref DOI link: https://doi.org/10.1038/s10038-024-01300-2

Published Online: 2024-10-28

Published Print: 2025-02

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

Authors

Ben Issa, Abir

Kamoun, Fatma

Khabou, Boudour

Bouchaala, Wafa

Fakhfakh, Faiza

Triki, Chahnez
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Text and Data Mining valid from 2024-10-28

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Article History

Received: 20 May 2024

Revised: 27 September 2024

Accepted: 16 October 2024

First Online: 28 October 2024

Competing interests

: The authors declare no competing interests.

: The study was conducted in accordance with the principles stated in the Declaration of Helsinki-Ethical Principles for Medical Research Involving Human Subjects, Helsinki, Finland, 1964, and as amended in Fortaleza, Brazil, 2013. The study design was approved by the committee on research ethics of the University of Sfax, Tunisia.

: Informed consent for publication of this study was obtained from all patients and/or families involved.

: We certify that all contributors have read and approved the submission to this journal and that there is no financial or commercial involvement, or other conflict of interest by any author.

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