A novel cardiomyopathy phenotype linked to a CHD7 missense variant
Abstract Loss of function in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense va...
-д хадгалсан:
| Үндсэн зохиолчид: | , , , , , , , , , |
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| Формат: | Artigo |
| Хэл сонгох: | Inglês |
| Хэвлэсэн: |
Nature Portfolio
2025-06-01
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| Цуврал: | Scientific Reports |
| Нөхцлүүд: | |
| Онлайн хандалт: | https://doi.org/10.1038/s41598-025-00606-1 |
| Шошгууд: |
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
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