A review of 88 cases from the literature with personal observations on 3 new patients is
given of the syndrome featured by juvenile diabetes mellitus, optic atrophy, hearing loss …

The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates
members of the transforming growth factor β superfamily of signalling proteins (TGFβ-FMs) …

Mutations inactivating the potassium channel KCNQ4 (Kv7. 4) lead to deafness in humans
and mice. In addition to its expression in mechanosensitive hair cells of the inner ear …

Hereditary hearing impairment is an extremely heterogeneous trait, with more than 70
identified loci. Only two of these loci are associated with an auditory phenotype that …

The surgical installation of bone-anchored hearing systems (BAHS) has after decades finally
undergone changes towards more minimally invasive techniques without soft tissue …

We have ascertained a multi-generation family with apparent autosomal recessive non-
syndromic childhood hearing loss (DFNB). Failure to demonstrate linkage in a genome-wide …

About one-half of children with profound deafness have an autosomal recessive or
autosomal dominant inherited type of deafness. The X-linked inherited types of deafness are …

Purpose To characterize new molecular factors implicated in a hereditary congenital facial
paresis (HCFP) family and otosclerosis. Methods We performed exome sequencing in a four …

X-linked deafness type 3 (DFN3) is the X-recessive mixed deafness syndrome with
congenital fixation of the stapedial footplate and perilymphatic gusher [1, 2]. The X-recessive …

Congenital aural atresia varies from a mild abnormality with narrowing of the external
auditory canal and hypoplasia of the tympanic membrane and middle ear space to the entire …