Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing f...
Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Purpose
To assess clinical characteristics of torpedo maculopathy (TM) lesions in an infant population with age ≤1.5 years and to investigate the role of NEXMIF mutation in the development of TM.
Methods
Retrospective analysis of medical records of 17 consecutive infants with the diagnosis of TM between 2016 January and 2019 December were...
Alternative Titles
Full title
Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9307558
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9307558
Other Identifiers
ISSN
0950-222X
E-ISSN
1476-5454
DOI
10.1038/s41433-021-01714-8
