Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
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3. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families;E Maestrini;Hum Mol Genet,1999
4. A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss;L Morle;J Med Genet,2000
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3. Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness;Frontiers in Genetics;2022-07-22
4. Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report;Journal of the European Academy of Dermatology and Venereology;2022-04-27
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