Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.
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| Title: | Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome. |
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| Authors: | Abu-El-Haija A; Division of Medical Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Bayat A; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Mancılar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Esen FN; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Tumer S; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Metli K; Kocaeli City Hospital, Kocaeli, Türkiye., Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Acibadem Maslak Hospital, Istanbul, Turkiye., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Lalani S; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA., Levy R; Department of Neurology, Lucile Packard Children's Hospital, Palo Alto, California, USA., Mihalek I; Department of Molecular Medicine and Biotechnology, University of Rijeka, Faculty of Medicine, Rijeka, Croatia., Redler S; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Mullegama SV; GeneDx LLC, Gaithersburg, Maryland, USA., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan., Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Nawaz S; Department of Human Genetics-Precision Medicine Program, Sidra Medicine, Doha, Qatar., Yang E; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts, USA., Bodamer O; Division of Medical Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of Harvard University and MIT, Cambridge, Massachusetts, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1725-1739. Date of Electronic Publication: 2026 Mar 12. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41821366 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Abu-El-Haija+A%22">Abu-El-Haija A</searchLink>; Division of Medical Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Mancılar+H%22">Mancılar H</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Uctepe+E%22">Uctepe E</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Esen+FN%22">Esen FN</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Tumer+S%22">Tumer S</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Metli+K%22">Metli K</searchLink>; Kocaeli City Hospital, Kocaeli, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yesilyurt+A%22">Yesilyurt A</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Acibadem Maslak Hospital, Istanbul, Turkiye.<br /><searchLink fieldCode="AU" term="%22Jamra+RA%22">Jamra RA</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Lalani+S%22">Lalani S</searchLink>; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Levy+R%22">Levy R</searchLink>; Department of Neurology, Lucile Packard Children's Hospital, Palo Alto, California, USA.<br /><searchLink fieldCode="AU" term="%22Mihalek+I%22">Mihalek I</searchLink>; Department of Molecular Medicine and Biotechnology, University of Rijeka, Faculty of Medicine, Rijeka, Croatia.<br /><searchLink fieldCode="AU" term="%22Redler+S%22">Redler S</searchLink>; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Mullegama+SV%22">Mullegama SV</searchLink>; GeneDx LLC, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Umair+M%22">Umair M</searchLink>; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Wegler+M%22">Wegler M</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Nawaz+S%22">Nawaz S</searchLink>; Department of Human Genetics-Precision Medicine Program, Sidra Medicine, Doha, Qatar.<br /><searchLink fieldCode="AU" term="%22Yang+E%22">Yang E</searchLink>; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Bodamer+O%22">Bodamer O</searchLink>; Division of Medical Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of Harvard University and MIT, Cambridge, Massachusetts, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1725-1739. <i>Date of Electronic Publication: </i>2026 Mar 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41821366 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.70125 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1725 Titles: – TitleFull: Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Abu-El-Haija A – PersonEntity: Name: NameFull: Bayat A – PersonEntity: Name: NameFull: Mancılar H – PersonEntity: Name: NameFull: Uctepe E – PersonEntity: Name: NameFull: Esen FN – PersonEntity: Name: NameFull: Tumer S – PersonEntity: Name: NameFull: Metli K – PersonEntity: Name: NameFull: Yesilyurt A – PersonEntity: Name: NameFull: Jamra RA – PersonEntity: Name: NameFull: Lalani S – PersonEntity: Name: NameFull: Levy R – PersonEntity: Name: NameFull: Mihalek I – PersonEntity: Name: NameFull: Redler S – PersonEntity: Name: NameFull: Mullegama SV – PersonEntity: Name: NameFull: Umair M – PersonEntity: Name: NameFull: Wegler M – PersonEntity: Name: NameFull: Nawaz S – PersonEntity: Name: NameFull: Yang E – PersonEntity: Name: NameFull: Bodamer O IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2026 Jul Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 200 – Type: issue Value: 7 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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