| Titre : | Seminars in hearing, Vol. 27, n°3. Genetics and Hearing loss - August 2006 |
| Type de document : | Bulletin |
| Paru le : | 01/08/2006 |
Dépouillements
Article
Epidemiological studies more than a century ago demonstrated that genetic factors are major contributors to hearing loss. Many genes associated with hearing loss have now been identified, although mutations in one of them, GJB2, explain a high p[...]
Article
Gap junctions are important structures in cell communication. Mutations in connexins, the building blocks of gap junctions, are involved in several human disorders including skin disease, peripheral neuropathy, cataracts, and deafness, the most [...]
Article
Hearing loss with an onset in the pre- or perilingual period is a common feature of many hearing loss syndromes, including Pendred syndrome (PS). Although first identified over 100 years ago, PS remains a diagnostic challenge for many clinicians[...]
Article
Auditory-pigmentary disorders result from the absence of melanocytes in the cochlea, skin, hair, and eyes. Waardenburg syndrome (WS) is one such autosomal dominant disorder that is characterized by congenital sensorineural hearing loss and pigme[...]
Article
Usher syndrome is the most common cause of “deaf/blindness” in developed countries. Its presenting symptom is hearing loss, which means that the audiologist is often the first to see a child with Usher syndrome. Due to the marked heterogeneity o[...]
