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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
Description
ISSN:2324-9269
DOI:10.1002/mgg3.70274