Associated Papers
Genotypes and clinical phenotypes of pediatric patients with NOG variants: Middle ear surgical outcomes from a Tertiary Center in South Korea.
Han SY et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Genetics of otosclerosis: finally catching up with other complex traits?
Tavernier LJM et al.
Human Genetics, 2022
Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.
Carlson RJ et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021
Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.
Yu R et al.
Bmc Medical Genomics, 2020
The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis.
Shu Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2019
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Gilberti M et al.
Plos One, 2018
30273399 (PubMed )
Supplement: pone.0205014.s003.doc
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
El-Hattab AW et al.
Molecular Genetics and Metabolism, 2010
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