Recent advances in genetic etiology of non-syndromic deafness in children

Y Feng, S Hu, S Zhao, M Chen - Frontiers in Neuroscience, 2023 - frontiersin.org
Congenital auditory impairment is a prevalent anomaly observed in approximately 2–3 per
1,000 infants. The consequences associated with hearing loss among children encompass …

Inherited deafness in childhood—the genetic revolution unmasks the clinical challenge

W Reardon, RF Mueller - Archives of disease in childhood, 2000 - adc.bmj.com
Approximately one child per 1000 is diagnosed with severe, profound, or early onset
hearing impairment, of whom approximately 50% are thought to have a genetic cause. 1 2 …

[HTML][HTML] Genetics and molecular biology of deafness: Update

KM Grundfast, N Siparsky, D Chuong - Otolaryngologic Clinics of North …, 2000 - Elsevier
In the last 2 decades, the relative incidence of acquired versus congenital hearing
impairment has changed. The acquired types of hearing impairment have diminished, while …

Genetics of nonsyndromic congenital hearing loss

OK Egilmez, MT Kalcioglu - Scientifica, 2016 - Wiley Online Library
Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most
frequent birth defect in developed societies. Hereditary types of hearing loss account for …

Genetic investigations in childhood deafness

M Parker, M Bitner-Glindzicz - Archives of disease in childhood, 2015 - adc.bmj.com
Permanent childhood sensorineural hearing loss, is one of the most common birth defects in
developed countries. It is important to identify the aetiology of hearing loss for many reasons …

Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis

I Schrijver, P Gardner - Expert review of molecular diagnostics, 2006 - Taylor & Francis
Hearing loss has a genetic etiology in the majority of cases and is very common. The
universal newborn hearing screening program, together with remarkable recent progress in …

Congenital hearing loss

AMH Korver, RJH Smith, G Van Camp… - Nature reviews Disease …, 2017 - nature.com
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent
chronic conditions in children. In the majority of developed countries, neonatal hearing …

[HTML][HTML] Hearing loss in neonates and infants

G Choe, SK Park, BJ Kim - Clinical and Experimental Pediatrics, 2023 - ncbi.nlm.nih.gov
Hearing in neonates and infants is crucial for their development of language and
communication skills. Unless hearing loss is appropriately managed early, it can cause a …

Republished: genetic investigations in childhood deafness

M Parker, M Bitner-Glindzicz - Postgraduate medical journal, 2015 - academic.oup.com
Permanent childhood sensorineural hearing loss, is one of the most common birth defects in
developed countries. It is important to identify the aetiology of hearing loss for many reasons …

Genetics: advances in genetic testing for deafness

AE Shearer, RJH Smith - Current opinion in pediatrics, 2012 - journals.lww.com
Deafness is the most common sensory deficit in humans. Genetic diagnosis has traditionally
been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For …