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Orphanet Journal of Rare Diseases|November 6, 2024
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findingsKatarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Katarzyna Woźniak, et al.European Journal of Human Genetics : EJHG|November 6, 2008
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneNele Hilgert, Matthew J Huentelman, Ashley Q Thorburn, et al.American Journal of Human Genetics|December 29, 2005
GJB2 mutations and degree of hearing loss: a multicenter studyRikkert L Snoeckx, Patrick L M Huygen, Delphine Feldmann, et al.Pageof 8