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Quoted phrase not found in phrase index: "Autosomal recessive nonsyndromic hearing loss 55"
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Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.
Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A. Bakhchane A, et al. Eur J Med Genet. 2016 Jun;59(6-7):325-9. doi: 10.1016/j.ejmg.2016.05.002. Epub 2016 May 8. Eur J Med Genet. 2016. PMID: 27169813
Sixty six families (43.42%) have mutations in the coding region of GJB2, while the homozygous c.35delG mutation still to date the most represented 51/152 (33.55%). The analysis of the geographical distribution of mutations located in GJB2 gene showed more allelic heterogen …
Sixty six families (43.42%) have mutations in the coding region of GJB2, while the homozygous c.35delG mutation still to date the most repre …
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
DeMille D, Carlston CM, Tam OH, Palumbos JC, Stalker HJ, Mao R, Zori RT, Viskochil DH, Park AH, Carey JC. DeMille D, et al. Am J Med Genet A. 2018 Apr;176(4):945-950. doi: 10.1002/ajmg.a.38648. Am J Med Genet A. 2018. PMID: 29575629
Here we report three novel dominant GJB2 variants (p.Thr55Ala, p.Gln57_Pro58delinsHisSer, and p.Trp44Gly); two associated with syndromic sensorineural hearing loss and one with nonsyndromic hearing loss. In the kindred with the p.Thr55Ala variant, the proband …
Here we report three novel dominant GJB2 variants (p.Thr55Ala, p.Gln57_Pro58delinsHisSer, and p.Trp44Gly); two associated with syndromic sen …