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- W4378974614 abstract "摘要： 【Abstract】 Objective To detect gene mutations in 1 patient with Vohwinkel syndrome who presented with palmoplantar keratoderma, pseudo-ainhum and deafness. Methods Clinical data were collected from the proband, and a genetic test was performed to identify mutation sites. Results Clinical manifestations of the proband were consistent with classical Vohwinkel syndrome. The genetic test revealed a heterozygous mutation c.160A>C （p.N54H） in the GJB2 gene, which was not detected in her parents or healthy controls. Conclusion The heterozygous mutation c.160A>C （p.N54H） in the GJB2 gene was first identified in a patient with classical Vohwinkel syndrome, and there were overlaps in mutation sites between classical Vohwinkel syndrome and palmoplantar keratoderma with deafness." @default.
- W4378974614 created "2023-06-02" @default.
- W4378974614 date "2023-06-02" @default.
- W4378974614 modified "2023-09-25" @default.
- W4378974614 title "A case of classical Vohwinkel syndrome caused by the mutation p.N54H in the GJB2 gene" @default.
- W4378974614 doi "https://doi.org/10.35541/cjd.20210598" @default.
- W4378974614 hasPublicationYear "2023" @default.
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