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Variants in CIB2 cause DFNB48 and not USH1J

K T Booth1,2, K Kahrizi3, M Babanejad3

  • 1Department of Otolaryngology, Head and Neck Surgery, Molecular Otolaryngology and Renal Research Laboratories, University of Iowa, Iowa City, IA, USA.

Clinical Genetics
|November 8, 2017
PubMed
Summary

Variants in the CIB2 gene cause autosomal recessive non-syndromic hearing loss (ARNSHL). This study provides evidence that CIB2 variants do not cause Usher syndrome (USH), clarifying diagnosis for patient care.

Keywords:
CIB2DFNB48USH1JUsher syndromedeafnessnon-syndromic hearing loss

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