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OTOF mutation screening in Japanese severe to profound recessive hearing loss patients

Overview of attention for article published in BMC Medical Genomics, September 2013
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Title
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients
Published in
BMC Medical Genomics, September 2013
DOI 10.1186/1471-2350-14-95
Pubmed ID
Authors

Yoh-ichiro Iwasa, Shin-ya Nishio, Hidekane Yoshimura, Yukihiko Kanda, Kozo Kumakawa, Satoko Abe, Yasushi Naito, Kyoko Nagai, Shin-ichi Usami

Abstract

Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). However, with age, the OAEs disappear, making it difficult to distinguish this condition from other nonsyndromic hearing loss. Therefore, the frequency of ANSD may be underestimated. The aim of this study was to determine what portion of nonsyndromic hearing loss is caused by mutations of OTOF, the major responsible gene for nonsyndromic ANSD.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 35 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 7 20%
Student > Ph. D. Student 6 17%
Student > Doctoral Student 4 11%
Student > Postgraduate 4 11%
Other 2 6%
Other 4 11%
Unknown 8 23%
Readers by discipline Count As %
Medicine and Dentistry 10 29%
Agricultural and Biological Sciences 7 20%
Biochemistry, Genetics and Molecular Biology 6 17%
Nursing and Health Professions 2 6%
Neuroscience 1 3%
Other 1 3%
Unknown 8 23%