Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7

CONCLUSION: This study expanded the mutation spectrum of CUL7, detected the aberrant splicing event of CUL7 via RT-PCR, constructed the haplotype for PGT-M, and demonstrated the successful delivery of a healthy baby using PGT-M.PMID:37877343 | DOI:10.1002/mgg3.2284

Source: Molecular Medicine - October 25, 2023 Category: Molecular Biology Authors: Xueqian Wang Yaqiong He Xiaorong Wang Xiangtian Kong Yunying Lin Yejie Yao Yi Huang Source Type: research