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

Amit K TiwariVarunvenkat M SrinivasanShubha Rao Phadke Deepti Saxena

Published in: Clinical genetics (2023)

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.

Keyphrases

copy number
intellectual disability
fatty acid
gene expression
dna methylation
autism spectrum disorder
genome wide
amino acid