DEAFNESS, AUTOSOMAL RECESSIVE 48
Semantic Scholar uses AI to extract papers important to this topic.
The genetic, mutational and phenotypic spectrum of deafness‐causing genes shows great diversity and pleiotropy. The best examples… Expand Defects of CIB2, calcium‐ and integrin‐binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher… Expand Hearing plays a crucial role in human development. Receiving and processing sounds are essential for the advancement of the… Expand Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium- and… Expand Dad S, Østergaard E, Thykjær T, Albrectsen A, Ravn K, Rosenberg T, Møller LB. Identification of a novel locus for a USH3 like… Expand Nonsyndromic deafness locus (DFNB48) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome 15… Expand