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Article

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.

American journal of medical genetics. Part A - 1 Apr 2020

Radhakrishnan Periyasamy, Shukla Anju, Girisha Katta M, Nayak Shalini S

Abstract excerpt

Fetal akinesia deformation sequence (FADS) is a clinically and genetically heterogeneous condition. Pathogenic variants in DOK7 are known to cause myasthenic syndrome, congenital, 10 (MIM#254300) and, rarely (reported in a single family) lethal FADS. Herein, we describe a biallelic variant c.1263dupC in DOK7, known to cause congenital myasthenic syndrome 10, causing lethal FADS in a consanguineous family. The...

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PMID: 31880392
DOI: 10.1002/ajmg.a.61473

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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