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Deafness, Autosomal Recessive 16

Known as: DFNB16 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal recessive inheritanceSTRC, 4-BP DEL, NT2171

Broader (1)

Sensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Rapid screening of copy number variations in STRC by droplet digital PCR in patients with mild-to-moderate hearing loss
Copy number variations (CNVs) are commonly reported in STRC, the causal gene for DFNB16. Various techniques are used clinically… 
2019
2019
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene
Hearing loss is the most frequent sensory disorder and is genetically extremely heterogeneous. By far the most frequent cause of… 
2019
2019
Phenotypic Characterization of DFNB16-associated Hearing Loss.
HYPOTHESIS We hypothesized that patients with DFNB16 caused hearing loss show characteristical audiological findings depending on… 
2018
2018
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype
Vestibular disorders comprise a heterogeneous group of diseases with transient or permanent loss of vestibular function… 
Highly Cited
2014
Highly Cited
2014
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A… 
Highly Cited
2011
Highly Cited
2011
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane
Stereocilin is defective in a recessive form of deafness, DFNB16. We studied the distribution of stereocilin in the developing… 
Review
2009
Review
2009
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
Background: International databases with information on copy number variation of the human genome are an important reference for… 
Review
2002
Review
2002
Hereditary deafness and phenotyping in humans.
Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non… 
1999
1999
Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132.
We thank the members of family S040 for their kind cooperation. We are also grateful to Prof. Jacques S. Beckmann for his kind… 
1997
1997
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is… 
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