Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
About this item
Full title
Author / Creator
Li, Mengnan , Nishio, Shin-ya , Naruse, Chie , Riddell, Meghan , Sapski, Sabrina , Katsuno, Tatsuya , Hikita, Takao , Mizapourshafiyi, Fatemeh , Smith, Fiona M. , Cooper, Leanne T. , Lee, Min Goo , Asano, Masahide , Boettger, Thomas , Krueger, Marcus , Wietelmann, Astrid , Graumann, Johannes , Day, Bryan W. , Boyd, Andrew W. , Offermanns, Stefan , Kitajiri, Shin-ichiro , Usami, Shin-ichi and Nakayama, Masanori
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the
SLC26A4
gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable number of patients appear to carry mono-allelic m...
Alternative Titles
Full title
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
Authors, Artists and Contributors
Author / Creator
Nishio, Shin-ya
Naruse, Chie
Riddell, Meghan
Sapski, Sabrina
Katsuno, Tatsuya
Hikita, Takao
Mizapourshafiyi, Fatemeh
Smith, Fiona M.
Cooper, Leanne T.
Lee, Min Goo
Asano, Masahide
Boettger, Thomas
Krueger, Marcus
Wietelmann, Astrid
Graumann, Johannes
Day, Bryan W.
Boyd, Andrew W.
Offermanns, Stefan
Kitajiri, Shin-ichiro
Usami, Shin-ichi
Nakayama, Masanori
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2394b397faac4471be86a22fa110d8db
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2394b397faac4471be86a22fa110d8db
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-020-15198-9
