Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.
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| Title: | Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant. |
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| Authors: | Alghamdi M; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; King Saud University Medical City, Riyadh, Saudi Arabia., Alghamdi G; Neurology Division, Internal Medicine Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Hundallah K; Neurology Division, Pediatric Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Jamjoom D; Neuroradiology Division, Radiology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Almontashiri N; Faculty of Applied Medical Sciences, Taibah University, Madinah, Saudi Arabia.; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Saudi Arabia., Alharbi E; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Saudi Arabia., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia., Alfadhel M; Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital (KASCH), MNGHA, Riyadh, Saudi Arabia. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Oct; Vol. 197 (10), pp. e64094. Date of Electronic Publication: 2025 May 21. |
| 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 |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.64094 |
