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

ConclusionThis study expanded the mutation spectrum ofCUL7, detected the aberrant splicing event ofCUL7 via RT-PCR, constructed the haplotype for PGT-M, and demonstrated the successful delivery of a healthy baby using PGT-M.

Source: Molecular Genetics & Genomic Medicine - October 25, 2023 Category: Genetics & Stem Cells Authors: Xueqian Wang, Yaqiong He, Xiaorong Wang, Xiangtian Kong, Yunying Lin, Yejie Yao, Yi Huang Tags: ORIGINAL ARTICLE Source Type: research