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SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.

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Bibliographic Details
Title: SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.
Authors: Kazem L; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait., Al-Qabandi W; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.; Department of Pediatrics, Amiri Hospital, Ministry of Health, 90005, Kuwait., Albash B; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., Elshafie R; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait., He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Alsharhan H; Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, P.O. Box 24923, Safat, 13110, 90805, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser 92426, Kuwait.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Oct 15; Vol. 45, pp. 101269. Date of Electronic Publication: 2025 Oct 15 (Print Publication: 2025).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2214-4269
DOI:10.1016/j.ymgmr.2025.101269