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Identification of a pathogenic variant and pre-implantation genetic testing for a Chinese family affected with split-hand/foot malformation.

Yi chuan = Hereditas - 1 Sept 2024

Mei Li-Bin, Zhang Yi-Yuan, Huang Xian-Jing, Ji Hong, Qiu Ping-Ping, Ding Lu, He Xuemei, Li Ping

Abstract excerpt

Split-hand/foot malformation is a serious congenital limb malformation characterized by syndactyly and underdevelopment of the phalanges and metatarsals. In this study, we reported a case of a fetus with hand-foot cleft deformity. Whole exome and Sanger sequencing were used to filter out candidate gene mutation sites and provide pre-implantation genetic testing(PGT) for family members. Genetic testing results...

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PMID: 39275874
DOI: 10.16288/j.yczz.24-141

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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