Case Report: Preimplantation Genetic Testing for X-Linked Severe Combined Immune Deficiency Caused by IL2RG Gene Variant

Preimplantation genetic testing (PGT) has been increasingly used to prevent rare inherited diseases. In this study, we report a case where PGT was used to prevent the transmission of disease-caused variant in a SCID-X1 (OMIM:300400) family. SCID-X1 is an X-linked recessive inherited disease whose ma...

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Detalles Bibliográficos
Autores principales: Ren, Jun, Peng, Cuiting, Zhou, Fan, Li, Yutong, Keqie, Yuezhi, Chen, Han, Zhu, Hongmei, Chen, Xinlian, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198258/
https://www.ncbi.nlm.nih.gov/pubmed/35719382
http://dx.doi.org/10.3389/fgene.2022.926060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198258/
https://www.ncbi.nlm.nih.gov/pubmed/35719382
http://dx.doi.org/10.3389/fgene.2022.926060

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