Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing

BACKGROUND: Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic disorder caused by STK11 mutation with a predisposition to gastrointestinal polyposis and cancer. PJS patients suffer poor quality of life and are highly concerned about whether deleterious mutations transmit to their offsprin...

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Detalles Bibliográficos
Autores principales: Xu, Xiqiao, Song, Ruifeng, Hu, Kaiyue, Li, Ya, Jin, Haixia, Chen, Bing, Song, Wenyan, Zhang, Yile, Xu, Jiawei, Sun, Yingpu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862355/
https://www.ncbi.nlm.nih.gov/pubmed/35189935
http://dx.doi.org/10.1186/s13023-022-02221-z

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