Deafness, Autosomal Recessive 16

Copy number variations (CNVs) are commonly reported in STRC, the causal gene for DFNB16. Various techniques are used clinically… Expand

HYPOTHESIS We hypothesized that patients with DFNB16 caused hearing loss show characteristical audiological findings depending on… Expand

Hearing loss is the most frequent sensory disorder and is genetically extremely heterogeneous. By far the most frequent cause of… Expand

Vestibular disorders comprise a heterogeneous group of diseases with transient or permanent loss of vestibular function… Expand

Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A… Expand

Stereocilin is defective in a recessive form of deafness, DFNB16. We studied the distribution of stereocilin in the developing… Expand

Objective: Hearing impairment is the most frequent sensorineural defect in 2 forms, syndromic and non–syndromic. The aim of this… Expand

Background: International databases with information on copy number variation of the human genome are an important reference for… Expand

We thank the members of family S040 for their kind cooperation. We are also grateful to Prof. Jacques S. Beckmann for his kind… Expand

Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is… Expand