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Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until implementation of massively parallel DNA sequencing. In Europe, the most common form of autosomal recessive NSHI is DFNB1, wh …
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until …
Autosomal recessive nonsyndromic hearing loss.
Sundstrom RA, Van Laer L, Van Camp G, Smith RJ. Sundstrom RA, et al. Am J Med Genet. 1999 Sep 24;89(3):123-9. doi: 10.1002/(sici)1096-8628(19990924)89:3<123::aid-ajmg2>3.0.co;2-p. Am J Med Genet. 1999. PMID: 10704186 Review.
Nearly all genes for autosomal recessive nonsyndromal inherited hearing loss (ARNSHL) localized thus far cause prelingual severe to profound or profound hearing impairment. Of the 25 reported loci, most have been identified using single consanguineous familie …
Nearly all genes for autosomal recessive nonsyndromal inherited hearing loss (ARNSHL) localized thus far cause prelingual seve …