Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.
Saved in:
| Title: | Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome. |
|---|---|
| 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 |
Be the first to leave a comment!
