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Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families

Crossref DOI link: https://doi.org/10.1038/s10038-025-01399-x

Published Online: 2025-09-01

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

Authors

Farazi Fard, Mohammad Ali

Tabatabaei, Zahra

Ajam-Hosseini, Mobarakeh

Nikuei, Pooneh

Gila, Fatemeh

Parvini, Farshid https://orcid.org/0000-0002-8136-3254
Jamali, Payman
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Article History

Received: 20 July 2025

Revised: 20 August 2025

Accepted: 22 August 2025

First Online: 1 September 2025

Competing interests

: The authors declare no competing interests.

: All methods were carried out in accordance with relevant guidelines and regulations. This study had been approved by the ethics committee of the pharmaceutical sciences branch of Islamic Azad University, Tehran, Iran (ethics approval code no. IR.IAU.PS.REC.1398.209). Written informed consent was obtained from parents and father of the patients, as their legal guardians, to participate in this study. A copy of the written consent is available as requested.

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