Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis an...
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism
About this item
Full title
Author / Creator
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
In this study, we describe three unrelated Japanese patients with hearing loss and symphalangism who were diagnosed with proximal symphalangism (SYM1), atypical multiple synostosis syndrome (atypical SYNS1) and stapes ankylosis with broad thumb and toes (SABTT), respectively, based on the clinical features. Surgical findings in the middle ear were...
Alternative Titles
Full title
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1654687172
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1654687172
Other Identifiers
ISSN
1434-5161,1435-232X
E-ISSN
1435-232X
DOI
10.1038/jhg.2014.97
