Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population en...
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant
About this item
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Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
United States: John Wiley & Sons, Inc
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Contents
Background
The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate‐to‐severe hearing impairment.
Methods
Exome and custom capture next‐generation sequencing were used to detect the underlying cause of hearing impairme...
Alternative Titles
Full title
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_cbb5456d32564b2dbad9eab4e1b6f46a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cbb5456d32564b2dbad9eab4e1b6f46a
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1866
