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

Authors :
Tiwari, Amit K.
Srinivasan, Varunvenkat M.
Phadke, Shubha R.
Saxena, Deepti
Source :
Clinical Genetics. Feb2024, Vol. 105 Issue 2, p226-227. 2p.
Publication Year :
2024

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]

Subjects

Subjects :
*LITERATURE reviews
*CONGENITAL myasthenic syndromes

Details

Language :
English
ISSN :
00099163
Volume :
105
Issue :
2
Database :
Academic Search Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
174636379
Full Text :
https://doi.org/10.1111/cge.14431
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