[SMC] Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature
Posté : 18 oct. 2023 12:00
Clin Genet. 2023 Oct 17. doi: 10.1111/cge.14431. Online ahead of print.
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.
PMID:37849383 | DOI:10.1111/cge.14431
Source: https://pubmed.ncbi.nlm.nih.gov/3784938 ... t6+86293ac