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A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings.

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Title: A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings.
Authors: Alsharhan H; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Safat, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alostad W; Department of Pediatrics, Jaber Al-Ahmad Hospital, Ministry of Health, Kuwait, Kuwait., Ali AA; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, Egypt., Ebrahim MA; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Safat, Kuwait.; Cardiology Department, Chest Hospital, Ministry of Health, Kuwait, Kuwait., Mohammed HAF; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alahmad A; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait., Alhashemi H; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Hassan WM; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alhaj AEMS; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Alsafi RM; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait., Albash B; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.
Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2026 Jul; Vol. 14 (7), pp. e70274.
Publication Type: Journal Article
Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings.
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  Data: <searchLink fieldCode="AU" term="%22Alsharhan+H%22">Alsharhan H</searchLink>; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Safat, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alostad+W%22">Alostad W</searchLink>; Department of Pediatrics, Jaber Al-Ahmad Hospital, Ministry of Health, Kuwait, Kuwait.<br /><searchLink fieldCode="AU" term="%22Ali+AA%22">Ali AA</searchLink>; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, Egypt.<br /><searchLink fieldCode="AU" term="%22Ebrahim+MA%22">Ebrahim MA</searchLink>; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Safat, Kuwait.; Cardiology Department, Chest Hospital, Ministry of Health, Kuwait, Kuwait.<br /><searchLink fieldCode="AU" term="%22Mohammed+HAF%22">Mohammed HAF</searchLink>; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alahmad+A%22">Alahmad A</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alhashemi+H%22">Alhashemi H</searchLink>; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.<br /><searchLink fieldCode="AU" term="%22Hassan+WM%22">Hassan WM</searchLink>; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alhaj+AEMS%22">Alhaj AEMS</searchLink>; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alsafi+RM%22">Alsafi RM</searchLink>; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.<br /><searchLink fieldCode="AU" term="%22Albash+B%22">Albash B</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.
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  Data: <searchLink fieldCode="JN" term="%22101603758%22">Molecular genetics & genomic medicine</searchLink> [Mol Genet Genomic Med] 2026 Jul; Vol. 14 (7), pp. e70274.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%22">John Wiley & Sons </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101603758 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2324-9269 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223249269%22">23249269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Genomic Med <i>Subsets: </i>MEDLINE
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        Value: 10.1002/mgg3.70274
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      – TitleFull: A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings.
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            – D: 01
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              Text: 2026 Jul
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              Y: 2026
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