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Year | Number of Results |
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2018 | 1 |
2019 | 1 |
2021 | 2 |
2022 | 1 |
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Page 1
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Clin Genet. 2018 Aug;94(2):221-231. doi: 10.1111/cge.13368. Epub 2018 Jun 8.
Clin Genet. 2018.
PMID: 29676012
Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants.
Yu S, Chen WX, Zhang YF, Chen C, Ni Y, Duan B, Wang H, Xu ZM.
Yu S, et al.
Int J Pediatr Otorhinolaryngol. 2021 Jun;145:110715. doi: 10.1016/j.ijporl.2021.110715. Epub 2021 Apr 20.
Int J Pediatr Otorhinolaryngol. 2021.
PMID: 33892339
Review.
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Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
Kim BJ, Jeon HW, Jeon W, Han JH, Oh J, Yi N, Kim MY, Kim M, Kim JN, Kim BH, Hyon JY, Kim D, Koo JW, Oh DY, Choi BY.
Kim BJ, et al.
J Med Genet. 2022 May;59(5):470-480. doi: 10.1136/jmedgenet-2020-107594. Epub 2021 Mar 22.
J Med Genet. 2022.
PMID: 33753533
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Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Maekawa K, Nishio SY, Abe S, Goto SI, Honkura Y, Iwasaki S, Kanda Y, Kobayashi Y, Oka SI, Okami M, Oshikawa C, Sakuma N, Sano H, Shirakura M, Uehara N, Usami SI.
Maekawa K, et al.
Genes (Basel). 2019 Sep 23;10(10):735. doi: 10.3390/genes10100735.
Genes (Basel). 2019.
PMID: 31547530
Free PMC article.
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