Article

Heterozygous Zinc Finger 469 Gene Changes Contribute to Ehlers-Danlos Syndrome, Hypermobile Type

2026-03-04

Abstract excerpt

The ZNF469 transcription factor and collagen-homologous matrix contributor, first related to recessively inherited brittle cornea syndrome, was found variant in 8 patients with Ehlers-Danlos syndrome and an additional 14 from the literature with related connective tissue findings. Systematic documentation of skin, skeletal, cardiovascular, and neuro-autonomic findings in the 8 patients supported the diagnosis of E...

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Literature Corpus work: 204dfd8d-efee-5884-9d25-f725b9ed7a6f
DOI: 10.20944/preprints202603.0321.v1

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