A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment.
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| Title: | A novel CLRN2 variant: expanding the mutation spectrum and its critical role in isolated hearing impairment. |
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| Authors: | Ahmad F; Department of Biochemistry, Faculty of Sciences, Women University Swabi Main Campus Kotha, Swabi, 23430, Khyber Pakhtunkhwa, Pakistan. farooq.ahmad@wus.edu.pk., Mahmood A; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), University of Campania 'Luigi Vanvitelli', Via Vivaldi 43, Caserta,, 81100, Italy., Almazni IA; Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, Najran University, P.O. Box 1988, 61441, Najran, Saudi Arabia., Shakoori AM; Department of Clinical Laboratory sciences, Faculty of Applied Medical Sciences, Umm Al- Qura University, 21955, Makkah, Kingdom of Saudi Arabia., Alhakami F; Department of Medical Laboratory Technology, College of Nursing and Health Sciences, Jazan University, 45142, Jazan, Saudi Arabia., Alam Q; Molecular Genomics and Precision Medicine Department, ExpressMed Diagnostics and Research, 358, 359, 360, Zinj, Kingdom of Bahrain., Ismail M; Department of Chemistry, Faculty of Sciences, Women University Swabi Main Campus Kotha, Swabi, 23430, Khyber Pakhtunkhwa, Pakistan., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard Health Affairs (MNGH), King Saud Bin Abdulaziz University for Health Sciences, Riyadh, 11426, Saudi Arabia. umairmu@ngha.med.sa.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, 54770, Pakistan. umairmu@ngha.med.sa. |
| Source: | Genes & genomics [Genes Genomics] 2025 Apr; Vol. 47 (4), pp. 417-423. Date of Electronic Publication: 2024 Oct 24. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: The Korean Society of Genetics Country of Publication: Korea (South) NLM ID: 101481027 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-9293 (Electronic) Linking ISSN: 19769571 NLM ISO Abbreviation: Genes Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2092-9293 |
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| DOI: | 10.1007/s13258-024-01590-y |
