1.
Clin Chem Lab Med
; 60(3): 61-63, 2022 02 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34854655
2.
Int J Pediatr Otorhinolaryngol
; 127: 109653, 2019 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31472357
RESUMO
Several forms of sensorineural hearing loss (SNHL) have been imputated to connexins mutations and prevalently to connexin 26 (Cx26), codified by the GJB2 gene (gap junction protein, beta 2). Here, we report the first familiar case (heterozygous p. G130V mutation) of non-syndromic (without any dermatological manifestation) dominant profound SNHL. Proband was a 6-years-old male with post-lingual bilateral profound SNHL, clinically identified at the age of 3 with diagnosis of severe SNHL. We confirm that the p. G130V variant of the GJB2 gene is causative of autosomal dominant form of SNHL, although it is not always associated with the presence of skin diseases.
Assuntos
Conexina 26/genética , Conexinas/genética , Perda Auditiva Neurossensorial/genética , Criança , Feminino , Heterozigoto , Humanos , Masculino , Mutação , Linhagem
3.
Leuk Res
; 36(1): e10-1, 2012 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21962337