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Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family

Published Online: 2025-09-22

Published Print: 2025-12

Authors

Mammadova, Nurana

Yildirim, A. Baki

Sevim, Duygu Gulmez

Bozkurt, Tugce

Sezerman, Ugur

Dundar, Munis
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Text and Data Mining valid from 2025-09-22

Version of Record valid from 2025-09-22
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Article History

Received: 6 August 2025

Accepted: 12 September 2025

First Online: 22 September 2025

Declarations

:

: The authors declare no conflicts of interest.

: Ethical approval was waived because this study describes a single family case report and does not involve experimental interventions. Written informed consent was obtained from all participants for the performance of genetic analyses and the use of photographic materials in scientific publications.

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