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Article

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

Clinical genetics - 1 Feb 2024

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

Abstract excerpt

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.

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Identifiers

PMID: 37849383
DOI: 10.1111/cge.14431

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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