Haplotype‐based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A
Prenatal Diagnosis2023Vol. 43(12), pp. 1544–1555
Citations Over TimeTop 13% of 2023 papers
Xinyu Fu, Shaojun Li, Zhenhua Zhao, Lingrong Kong, Jingqi Zhu, Huanyun Li, Jun Feng, Weiqin Tang, Di Wu, Xiangdong Kong
Abstract
NIPD-MMA presents a viable choice for early, accurate, and safe prenatal diagnosis. Furthermore, the discovery of the recurrent core pathogenic haplotype provides a novel approach for haplotype phasing and has the potential for realizing proband-independent NIPD in the future.
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