Compound inheritance of rare and common RET variants in a Chinese family with three unfavorable pregnancies involving Hirschsprung's disease
Objective: Specific alleles of the RET gene (rs2506030, rs7069590 and rs2435357) are associated with an increased risk of Hirschsprung disease (HSCR). This study aimed to investigate the modified effects of these functionally independent enhancer variants on the penetrance of RET-associated HSCR in...
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| Principais autores: | , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Elsevier
2025-09-01
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| Serier: | Taiwanese Journal of Obstetrics & Gynecology |
| Fag: | |
| Online adgang: | http://www.sciencedirect.com/science/article/pii/S1028455925001883 |
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