Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8755044 | Auris Nasus Larynx | 2016 | 5 Pages |
Abstract
We report a Japanese family carrying compound heterozygotes of truncating and nontruncating mutations in LOXHD1 identified by targeted NGS analysis. The fact of lower degree of hearing impairment in our cases than previously reported and the molecular modeling of the missense mutant provide insight to the genotype-phenotype correlation of DFNB77.
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Authors
Shujiro B. Minami, Hideki Mutai, Kazunori Namba, Hirokazu Sakamoto, Tatsuo Matsunaga,