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[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2025

Shen Boning, Tian Yurun, Wan Li, Zhang Ying, Sun Zhifeng

Abstract excerpt

OBJECTIVE: To block the transmission of Cranio-facial-nasal syndrome (CFNS) caused by a large deletion of the EFNB1 gene through preimplantation genetic testing for monogenic disorders (PGT-M). METHODS: A patient with craniofacial deformities and his parents who had visited Shiyan People's Hospital in June 2020 were selected as the study subjects. The child underwent whole exome sequencing (WES) and qPCR...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41811039
DOI: 10.3760/cma.j.cn511374-20250813-00486

Genes

EFNB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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