7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy
Abstract Background Chromosome 7 has regions enriched with low copy repeats (LCRs), which increase the likelihood of chromosomal microdeletion disorders. Documented microdeletion disorders on chromosome 7 include both well-known Williams syndrome and more rare cases. It is noteworthy that most cases...
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| Главные авторы: | , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMC
2024-08-01
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| Серии: | Orphanet Journal of Rare Diseases |
| Предметы: | |
| Online-ссылка: | https://doi.org/10.1186/s13023-024-03321-8 |
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