A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

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Bibliographic Details
Title: A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.
Authors: Kiraz A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. aslihankiraz@erciyes.edu.tr., Erdogan M; Department of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, Turkey., Balta B; Department of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, Turkey., Gumus H; Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Mutlu MB; Detagen Genetic Diseases Evaluation Center, Kayseri, Turkey., Mammadova N; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Ozcelik F; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Sahin IO; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Guven AS; Department of Pediatric Neurology, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey., Kumandas S; Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Savranlar A; Department of Radiology, Kayseri City Education and Research Hospital, Kayseri, Turkey., Karaman F; Department of Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Per H; Department of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Source: Neurogenetics [Neurogenetics] 2025 May 31; Vol. 26 (1), pp. 47. Date of Electronic Publication: 2025 May 31.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1364-6753
DOI:10.1007/s10048-025-00825-8