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Article

Phenotype of COL3A1/COL5A2 deletion patients.

European journal of medical genetics - 1 Oct 2022

Kempers Marlies Je, Wessels Marja, Van Berendoncks An, van de Laar Ingrid Mbh, de Leeuw Nicole, Loeys Bart

Abstract excerpt

INTRODUCTION: The diagnosis of Ehlers-Danlos syndrome is usually based on well-defined diagnostic criteria and the result of DNA investigation. Classical (cEDS) and vascular type (vEDS) are the most prevalent subtypes and are caused by heterozygous pathogenic variants in COL5A1, COL5A2, COL1A1 or, respectively, in COL3A1. We describe 3 cases with contiguous deletions resulting in haploinsufficiency of both genes...

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Identifiers

PMID: 35964930
DOI: 10.1016/j.ejmg.2022.104593

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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