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 Full article

Journal

Egyptian Journal of Medical Human Genetics
ISSN: 2090-2441

Output data

Year: 2025, Volume: 26, Number: 1, Pages: 1-9 Pages count : 9 DOI: 10.1186/s43042-025-00649-z

Authors

Tonyan Ziravard N. ¹ , Nasykhova Yulia A. ¹ , Danilova Maria M. ¹ , Shabanova Elena S. ¹ , Bespalova Olesya N. ¹ , Kogan Igor Y. ¹ , Glotov Andrey S. ¹

Affiliations

1	Federal State Budgetary Scientific Institution "The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott"

Funding (1)

Министерство науки и высшего образования Российской Федерации

FGWN-2022-0001

Tonyan Z.N. , Nasykhova Y.A. , Danilova M.M. , Shabanova E.S. , Bespalova O.N. , Kogan I.Y. , Glotov A.S.
Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia
Egyptian Journal of Medical Human Genetics. 2025. V.26. N1. P.1-9. DOI: 10.1186/s43042-025-00649-z WOS OpenAlex

Web of science:	WOS:001415918500001
OpenAlex:	W4407184684

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