A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
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| Title: | A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability. |
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| Authors: | Yousaf H; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Rehmat S; Center for Regenerative Medicine and Stem Cell Research (CRM), The Aga Khan University, Karachi, Pakistan., Jameel M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Center for Regenerative Medicine and Stem Cell Research (CRM), The Aga Khan University, Karachi, Pakistan., Ibrahim R; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Hashmi SN; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Makhdoom EUH; Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan., Iwaszkiewicz J; Molecular Modeling Group, SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland., Saadi SM; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Tariq M; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan., Baig SM; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Toft M; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Oslo, Norway., Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan., Iqbal Z; Department of Neurology, Oslo University Hospital, Oslo, Norway. |
| Source: | Clinical genetics [Clin Genet] 2023 Sep; Vol. 104 (3), pp. 324-333. Date of Electronic Publication: 2023 Jun 15. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14386 |
