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Affected-embryo-based SNP haplotyping with NGS for the preimplantation genetic testing of Marfan syndrome.

Systems biology in reproductive medicine - 1 Aug 2021

Deng Yu, Ou Zhanhui, Li Ru, Chen Zhiheng, Liang Peiling, Sun Ling

Abstract excerpt

Marfan syndrome (MFS), an autosomal dominant heritable disease of the connective tissue, is characterized by broad clinical manifestations in the musculoskeletal, cardiovascular, pulmonary, and ocular systems. In this study, a male patient with MFS caused by a heterozygous mutation NM_000138.5(FBN1):c.6037 + 2 T > C in the fibrillin 1 gene (FBN1) underwent preimplantation genetic testing (PGT) by using...

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Identifiers

PMID: 34053377
DOI: 10.1080/19396368.2021.1926574

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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