Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypop...
Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Despite the advent of genomic sequencing, molecular diagnosis remains unsolved in approximately half of patients with Mendelian disorders, largely due to unclarified functions of noncoding regions and the difficulty in identifying complex structural variations. In this study, we map a unique form of central iris hypoplasia in a large family to 6q15...
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Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia
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TN_cdi_doaj_primary_oai_doaj_org_article_0b944339a0a844e0bb037211d1be8e0b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0b944339a0a844e0bb037211d1be8e0b
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-024-49376-w
