Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths

Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths

Abstract Purpose Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology...

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Bibliographic Details
Main Authors: Lingyun Zhang, Lei Feng, Hao Shi, Wenbin Niu, Yanchi Wang, Bei Bu, Yidong Liu, Xiao Bao, Wenyan Song, Haixia Jin, Yingpu Sun
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PGT-M
SCID
Karyomapping
Rare disease
Online Access:https://doi.org/10.1186/s13023-024-03525-y
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