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Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
- 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 :
- LITERATURE reviews
CONGENITAL myasthenic syndromes
Subjects
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 105
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 174636379
- Full Text :
- https://doi.org/10.1111/cge.14431