Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia
Abstract 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 uniqu...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2024-06-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-024-49376-w |