Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder
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| Title: | Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder |
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| Authors: | Singin B; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye, Donbaloğlu Z; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye, Barsal Çetiner E; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye, Bedel A; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye, Çetin K; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye, Akcan Paksoy B; Akdeniz University Faculty of Medicine, Department of Pediatric Metabolic Diseases, Antalya, Türkiye, Kalkan T; University of Health Sciences Türkiye, Antalya Training and Research Hospital, Clinic of Molecular Genetics, Antalya, Türkiye, Akbaş H; Akdeniz University Faculty of Medicine, Department of Medical Biochemistry, Antalya, Türkiye, Ünver Tuhan H; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye, Parlak M; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye |
| Source: | Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2026 May 22; Vol. 18 (Suppl 1), pp. 83-91. Date of Electronic Publication: 2025 Mar 19. |
| Publication Type: | Journal Article; Case Reports; Review |
| 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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40103355 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Singin+B%22">Singin B</searchLink>; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye<br /><searchLink fieldCode="AU" term="%22Donbaloğlu+Z%22">Donbaloğlu Z</searchLink>; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye<br /><searchLink fieldCode="AU" term="%22Barsal+Çetiner+E%22">Barsal Çetiner E</searchLink>; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye<br /><searchLink fieldCode="AU" term="%22Bedel+A%22">Bedel A</searchLink>; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye<br /><searchLink fieldCode="AU" term="%22Çetin+K%22">Çetin K</searchLink>; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye<br /><searchLink fieldCode="AU" term="%22Akcan+Paksoy+B%22">Akcan Paksoy B</searchLink>; Akdeniz University Faculty of Medicine, Department of Pediatric Metabolic Diseases, Antalya, Türkiye<br /><searchLink fieldCode="AU" term="%22Kalkan+T%22">Kalkan T</searchLink>; University of Health Sciences Türkiye, Antalya Training and Research Hospital, Clinic of Molecular Genetics, Antalya, Türkiye<br /><searchLink fieldCode="AU" term="%22Akbaş+H%22">Akbaş H</searchLink>; Akdeniz University Faculty of Medicine, Department of Medical Biochemistry, Antalya, Türkiye<br /><searchLink fieldCode="AU" term="%22Ünver+Tuhan+H%22">Ünver Tuhan H</searchLink>; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye<br /><searchLink fieldCode="AU" term="%22Parlak+M%22">Parlak M</searchLink>; Akdeniz University Faculty of Medicine, Department of Pediatric Endocrinology, Antalya, Türkiye – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101519456%22">Journal of clinical research in pediatric endocrinology</searchLink> [J Clin Res Pediatr Endocrinol] 2026 May 22; Vol. 18 (Suppl 1), pp. 83-91. <i>Date of Electronic Publication: </i>2025 Mar 19. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports; Review – Name: TitleSource Label: Journal Info Group: Src 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 |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40103355 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.4274/jcrpe.galenos.2025.2024-12-4 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 83 Titles: – TitleFull: Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Singin B – PersonEntity: Name: NameFull: Donbaloğlu Z – PersonEntity: Name: NameFull: Barsal Çetiner E – PersonEntity: Name: NameFull: Bedel A – PersonEntity: Name: NameFull: Çetin K – PersonEntity: Name: NameFull: Akcan Paksoy B – PersonEntity: Name: NameFull: Kalkan T – PersonEntity: Name: NameFull: Akbaş H – PersonEntity: Name: NameFull: Ünver Tuhan H – PersonEntity: Name: NameFull: Parlak M IsPartOfRelationships: – BibEntity: Dates: – D: 22 M: 05 Text: 2026 May 22 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1308-5735 Numbering: – Type: volume Value: 18 – Type: issue Value: Suppl 1 Titles: – TitleFull: Journal of clinical research in pediatric endocrinology Type: main |
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