1.
Clin Chem Lab Med
; 60(3): 61-63, 2022 02 23.
Artículo
en Inglés
| MEDLINE
| ID: mdl-34854655
2.
Int J Pediatr Otorhinolaryngol
; 127: 109653, 2019 Dec.
Artículo
en Inglés
| MEDLINE
| ID: mdl-31472357
RESUMEN
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.
Asunto(s)
Conexina 26/genética , Conexinas/genética , Pérdida Auditiva Sensorineural/genética , Niño , Femenino , Heterocigoto , Humanos , Masculino , Mutación , Linaje
3.
Leuk Res
; 36(1): e10-1, 2012 Jan.
Artículo
en Inglés
| MEDLINE
| ID: mdl-21962337