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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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Hlavní autoři: Shanshan Shi, Shaobin Lin, Zhiming He
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2025-09-01
Edice:Taiwanese Journal of Obstetrics & Gynecology
Témata:
Hirschsprung disease
RET
Compound inheritance
Prenatal diagnosis
Preimplantation
On-line přístup:http://www.sciencedirect.com/science/article/pii/S1028455925001883
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