Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia

Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia

Abstract Background Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene. Case presentation This article presents a clinical case of preimplantation genetic testing for monogen...

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Bibliographic Details
Main Authors: Ziravard N. Tonyan, Yulia A. Nasykhova, Maria M. Danilova, Elena S. Shabanova, Olesya N. Bespalova, Igor Y. Kogan, Andrey S. Glotov
Format: Article
Language:English
Published: SpringerOpen 2025-02-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Diastrophic dysplasia
Assisted reproductive technology
Preimplantation genetic testing
SLC26A2
PGT-M
Haplotype analysis
Online Access:https://doi.org/10.1186/s43042-025-00649-z
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https://doi.org/10.1186/s43042-025-00649-z

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