2014
DOI: 10.1055/s-0034-1373783
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Abstract: Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11–22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to change the diagnostic evaluation and identification of the etiology of hearing loss. Objective To investigate the occurrence of the 35delG mutation in patients with nonsyndromic sen… Show more

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Cited by 7 publications
(2 citation statements)
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“…In Greece, Italy, Turkey, and Israel, for example, the detected frequency for the 35delG varied between 33.1 and 37.7% [2,[20][21][22][23]. On the other hand, in Oman, the frequency is 0% [24], in Brazil 7% [25] and up to 43.6% in a Slovak population [26]. A Moroccan study found a prevalence of 25% [27], whereas in the Slovenian population, the homozygous mutations account for 21.1% of the studied cases [28].…”
Section: Discussionmentioning
confidence: 99%
“…In Greece, Italy, Turkey, and Israel, for example, the detected frequency for the 35delG varied between 33.1 and 37.7% [2,[20][21][22][23]. On the other hand, in Oman, the frequency is 0% [24], in Brazil 7% [25] and up to 43.6% in a Slovak population [26]. A Moroccan study found a prevalence of 25% [27], whereas in the Slovenian population, the homozygous mutations account for 21.1% of the studied cases [28].…”
Section: Discussionmentioning
confidence: 99%
“…Evidence of the genetic etiology of HL in Brazil has been demonstrated by a number of independent studies (Pfeilsticker et al., ; Piatto et al., ; Bernardes et al., ; de Oliveira et al., ; Christiani et al., ; Batissoco et al., ; Cordeiro‐Silva et al., ; Motta et al., ; Castro et al., ; Manzoli et al., ; Ramos et al., ; Melo et al., ; Moreira et al., ). Most studies present data representative of Brazil's southeast region, while few studies show genetic HL data from the north and northeast regions.…”
Section: Introductionmentioning
confidence: 97%