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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.
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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  Data: Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.
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  Data: <searchLink fieldCode="AU" term="%22Alghamdi+M%22">Alghamdi M</searchLink>; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; King Saud University Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alghamdi+G%22">Alghamdi G</searchLink>; Neurology Division, Internal Medicine Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Hundallah+K%22">Hundallah K</searchLink>; Neurology Division, Pediatric Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Jamjoom+D%22">Jamjoom D</searchLink>; Neuroradiology Division, Radiology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Almontashiri+N%22">Almontashiri N</searchLink>; Faculty of Applied Medical Sciences, Taibah University, Madinah, Saudi Arabia.; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alharbi+E%22">Alharbi E</searchLink>; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Umair+M%22">Umair M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Alfadhel+M%22">Alfadhel M</searchLink>; Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital (KASCH), MNGHA, Riyadh, Saudi Arabia.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.64094
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        Text: English
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              Text: 2025 Oct
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