Log in to save to my catalogue

Comprehensive analysis of syndromic hearing loss patients in Japan

Comprehensive analysis of syndromic hearing loss patients in Japan

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_96252fd9eecb4e0fb430b805ec9cf43d

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel...

Alternative Titles

Full title

Comprehensive analysis of syndromic hearing loss patients in Japan

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_96252fd9eecb4e0fb430b805ec9cf43d

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_96252fd9eecb4e0fb430b805ec9cf43d

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-019-47141-4

How to access this item