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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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  Data: Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience
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  Data: <searchLink fieldCode="AU" term="%22Akalın+A%22">Akalın A</searchLink>; Diyarbakır Children’s Hospital, Clinic of Pediatric Genetics, Diyarbakır, Türkiye<br /><searchLink fieldCode="AU" term="%22Avcı+Durmuşalioğlu+E%22">Avcı Durmuşalioğlu E</searchLink>; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye<br /><searchLink fieldCode="AU" term="%22Özkalkak+Ş%22">Özkalkak Ş</searchLink>; Diyarbakır Children’s Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Türkiye<br /><searchLink fieldCode="AU" term="%22Yıldırım+R%22">Yıldırım R</searchLink>; Diyarbakır Children’s Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Türkiye<br /><searchLink fieldCode="AU" term="%22Öz+V%22">Öz V</searchLink>; Diyarbakır Children’s Hospital, Clinic of Pediatric Neurology, Diyarbakır, Türkiye<br /><searchLink fieldCode="AU" term="%22Ünal+E%22">Ünal E</searchLink>; Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Türkiye<br /><searchLink fieldCode="AU" term="%22Hazar+L%22">Hazar L</searchLink>; Dicle University Faculty of Medicine, Department of Ophthalmology, Diyarbakır, Türkiye<br /><searchLink fieldCode="AU" term="%22Turkut+Tan+T%22">Turkut Tan T</searchLink>; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye<br /><searchLink fieldCode="AU" term="%22Doğan+YC%22">Doğan YC</searchLink>; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye<br /><searchLink fieldCode="AU" term="%22Atik+T%22">Atik T</searchLink>; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye<br /><searchLink fieldCode="AU" term="%22Çoğulu+Ö%22">Çoğulu Ö</searchLink>; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye<br /><searchLink fieldCode="AU" term="%22Işık+E%22">Işık E</searchLink>; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye
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  Data: <searchLink fieldCode="JN" term="%22101519456%22">Journal of clinical research in pediatric endocrinology</searchLink> [J Clin Res Pediatr Endocrinol] 2025 Dec 11; Vol. 17 (4), pp. 436-448. <i>Date of Electronic Publication: </i>2025 Apr 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Galenos+Yayınevi%22">Galenos Yayınevi </searchLink><i>Country of Publication: </i>Turkey <i>NLM ID: </i>101519456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1308-5735 (Electronic) <i>NLM ISO Abbreviation: </i>J Clin Res Pediatr Endocrinol <i>Subsets: </i>MEDLINE
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