Skip to search formSkip to main contentSkip to account menu

DEAFNESS, AUTOSOMAL RECESSIVE 48

Known as: DFNB48 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
The genetic, mutational and phenotypic spectrum of deafness‐causing genes shows great diversity and pleiotropy. The best examples… 
2017
2017
Defects of CIB2, calcium‐ and integrin‐binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher… 
Review
2016
Review
2016
Hearing plays a crucial role in human development. Receiving and processing sounds are essential for the advancement of the… 
Highly Cited
2012
Highly Cited
2012
Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium- and… 
2010
2010
Dad S, Østergaard E, Thykjær T, Albrectsen A, Ravn K, Rosenberg T, Møller LB. Identification of a novel locus for a USH3 like… 
2004
2004
Nonsyndromic deafness locus (DFNB48) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome 15…