Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
About this item
Full title
Author / Creator
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia. 11p13 microdeletions altering PAX6 or its downstream regulatory region (DRR) are present in about 25% of patients; however, only a few complex rearrangements have been described to date. Here,...
Alternative Titles
Full title
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_d7b6bf8c425a4fb8968b32b2ebc4f0c9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d7b6bf8c425a4fb8968b32b2ebc4f0c9
Other Identifiers
ISSN
1479-7364,1473-9542
E-ISSN
1479-7364
DOI
10.1186/s40246-023-00490-8
