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| A compound heterozygous mutation in the |
| Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae |
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Clin Exp Pediatr. 2017;60(3):94-97. Published online March 27, 2017 DOI: https://doi.org/10.3345/kjp.2017.60.3.94 |
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A compound heterozygous mutation in theFMO3gene: the first pediatric case causes fish odor syndrome in Korea Korean Journal of Pediatrics. 2017;60(3):94  A Novel Compound Heterozygous Mutation in the WFS1 Gene (C.1997 G>A and C.2113_2114 ins T) Causes wolfram Syndrome: A Case Report . 2020; A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV Pediatric Nephrology. 2005;21(2):190-193 Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report Journal of Medical Case Reports. 2014;8(1): Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome International Journal of Pediatric Otorhinolaryngology. 2012;76(11):1633-1636 A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome Medicine. 2019;98(34):e16738 Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature Clinica Chimica Acta. 2022;537:112-117 Compound Heterozygous Polymerase Gamma Gene Mutation in a Patient With Alpers Disease Seminars in Pediatric Neurology. 2010;17(1):62-64 Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome Nature Genetics. 1997;17(4):491-494 FMO3 allelic variants in Sicilian and Sardinian populations: Trimethylaminuria and absence of fish-like body odor Gene. 2013;515(2):410-415 |
