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Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia

Crossref DOI link: https://doi.org/10.1007/s11033-024-09515-4

Published Online: 2024-04-29

Published Print: 2024-12

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

Authors

Liampas, Andreas

Nicolaou, Paschalis

Votsi, Christina

Georghiou, Anthi

Christodoulou, Kyproula

Tanteles, George A

Pantzaris, Marios
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Article History

Received: 17 January 2024

Accepted: 3 April 2024

First Online: 29 April 2024

Declarations

:

: The studies involving human participants were reviewed and approved by The Cyprus National Bioethics Committee (EBKK/ EÎ/2013/18, May 14, 2015). The patients/participants provided their written informed consent to participate in this study. Written informed consent was obtained from the individual(s) for the publication of any potentially identifiable images or data included in this article.

: The authors declare no competing interests.

: Andreas Liampas, Paschalis Nicolaou, Christina Votsi, Anthi Georghiou, Kyproula Christodoulou, George A. Tanteles, and Marios Pantzaris declare no personal, financial, commercial, or academic conflicts of interest.

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