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Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience

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Title: Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience
Authors: Akalın A; Diyarbakır Children’s Hospital, Clinic of Pediatric Genetics, Diyarbakır, Türkiye, Avcı Durmuşalioğlu E; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye, Özkalkak Ş; Diyarbakır Children’s Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Türkiye, Yıldırım R; Diyarbakır Children’s Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Türkiye, Öz V; Diyarbakır Children’s Hospital, Clinic of Pediatric Neurology, Diyarbakır, Türkiye, Ünal E; Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Türkiye, Hazar L; Dicle University Faculty of Medicine, Department of Ophthalmology, Diyarbakır, Türkiye, Turkut Tan T; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye, Doğan YC; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye, Atik T; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye, Çoğulu Ö; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye, Işık E; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye
Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2025 Dec 11; Vol. 17 (4), pp. 436-448. Date of Electronic Publication: 2025 Apr 11.
Publication Type: Journal Article
Journal Info: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1308-5735 (Electronic) NLM ISO Abbreviation: J Clin Res Pediatr Endocrinol Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1308-5735
DOI:10.4274/jcrpe.galenos.2025.2025-1-18