Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

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Title: Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Authors: Sharaf-Eldin WE; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Rafat K; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Eissa NR; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Hawaary B; Pediatrics Department, Faculty of Medicine, Aswan University, Aswan, Egypt., Gaboon NEA; Medical Genetics Centre, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA, 92093, USA., Essawi ML; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt. dr_mahazaki@yahoo.com.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt. dr_mahazaki@yahoo.com.
Source: Journal of molecular neuroscience : MN [J Mol Neurosci] 2024 Oct 05; Vol. 74 (4), pp. 93. Date of Electronic Publication: 2024 Oct 05.
Publication Type: Journal Article
Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1559-1166
DOI:10.1007/s12031-024-02266-8