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A Novel p.Tyr129His Variant in SIX1 Leads to Dominant, Delayed-onset Hearing Loss with Possible Association with Congenital Anosmia.

Biomedical and environmental sciences : BES - 20 Apr 2021

Pang Xiu Hong, Zheng Xiao Yong, Lin Yun, Zheng Hao, Xu Jun, Liu Dong, Jin Chun Yan, Zhang Lu Ping, Zhang Yu Ting, Chu Jiu Sheng, Chai Yong Chuan, Yang Tao

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PMID: 33894811
DOI: 10.3967/bes2021.013

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A Novel p.Tyr129His Variant in SIX1 Leads to Dominant, Delayed-onset Hearing Loss with Possible Association with Congenital Anosmia.PMID 33894811Read ↗

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Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.Semantic proximity Read ↗

Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.Semantic proximity Read ↗

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.Semantic proximity Read ↗

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