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Your search keyword '"Saxena, Deepti"' showing total 1 results
Start Over Author "Saxena, Deepti" Publication Year Range Last 3 years Journal clinical genetics

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1 results on '"Saxena, Deepti"'

1. Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.

Author

Tiwari, Amit K., Srinivasan, Varunvenkat M., Phadke, Shubha R., and Saxena, Deepti

Subjects
*LITERATURE reviews, *CONGENITAL myasthenic syndromes
Abstract

We report the third case of FADS due to biallelic DOK7 variants, which further strengthens the association of DOK7 with this lethal phenotype and lack of genotype phenotype correlation. [ABSTRACT FROM AUTHOR]

Published
2024
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