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

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dc.contributor.authorMammadova, Nurana
dc.contributor.authorYildirim, A. Baki
dc.contributor.authorSevim, Duygu Gulmez
dc.contributor.authorBozkurt, Tugce
dc.contributor.authorSezerman, Ugur
dc.contributor.authorDundar, Munis
dc.date.accessioned2025-10-16T15:11:31Z
dc.date.issued2025
dc.identifier.doi10.1007/s11033-025-11058-1
dc.identifier.otherWOS:001577796000004
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/4748
dc.publisherSPRINGER
dc.sourceMOLECULAR BIOLOGY REPORTS
dc.subjectAlstrom syndrome
dc.subjectALMS1
dc.subject17q11.2 deletion
dc.subjectVSX2
dc.subjectMosaicism
dc.titleCo-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family
dc.typeArticle

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